glycine and Glycine Encephalopathy studies

glycine and Glycine Encephalopathy

glycine has been researched along with Glycine Encephalopathy in 75 studies

Research Excerpts

Excerpt	Relevance	Reference
"Glycine encephalopathy (GE), also known as non-ketotic hyperglycinemia, is a life-threatening metabolic disease caused by inherited deficiency of the glycine cleavage system (GCS)."	8.87	Two novel laboratory tests facilitating diagnosis of glycine encephalopathy (nonketotic hyperglycinemia). ( Kure, S, 2011)
"Glycine encephalopathy (GCE) is a rare autosomal recessive disorder caused by defects in the glycine cleavage complex."	7.81	Novel compound heterozygous LIAS mutations cause glycine encephalopathy. ( Matsumoto, N; Miyake, N; Nakashima, M; Ogata, K; Saitsu, H; Shiina, M; Shimada, S; Shimojima, K; Tanaka, R; Tsurusaki, Y; Yamamoto, T, 2015)
" The patient was found to have glycine encephalopathy resulting from a previously defined mutation in the GLDC gene."	7.80	Diagnosis of glycine encephalopathy in a pediatric patient by detection of a GLDC mutation during initial next generation DNA sequencing. ( Adıyaman, G; Biberoğlu, G; Çiftci, B; Ezgu, F; Gökmenoğlu, H; Hasanoğlu, A; Kasapkara, Ç; Küçükçongar, A; Topçu, B; Tümer, L, 2014)
"Classic neonatal-onset glycine encephalopathy (GE) is devastating and life threatening."	7.73	Mild glycine encephalopathy (NKH) in a large kindred due to a silent exonic GLDC splice mutation. ( Flusser, H; Galil, A; Korman, SH; Kure, S; Matsubara, Y; Sato, K, 2005)
"Glycine encephalopathy, or nonketotic hyperglycinaemia (NKH; Mckusick 238300) is a severe autosomal recessive disease due to a defect in the glycine cleavage system (GCS), which is a complex of four subunits: P-, T-, H- and L-proteins."	7.73	Genetic heterogeneity of the GLDC gene in 28 unrelated patients with glycine encephalopathy. ( Bonnet, V; Cheillan, D; Conter, C; Froissart, R; Maire, I; Rolland, MO, 2006)
"Glycine encephalopathy (GE) (non-ketotic hyperglycinemia) is an autosomal recessive neurometabolic disease caused by defective activity of the glycine cleavage system."	7.73	A single nucleotide substitution that abolishes the initiator methionine codon of the GLDC gene is prevalent among patients with glycine encephalopathy in Jerusalem. ( Ben-Neriah, Z; Boneh, A; Kanno, J; Korman, SH; Kure, S; Lerer, I; Matsubara, Y; Sato, K, 2005)
"A defect in the P-protein component of the glycine cleavage system has been the most frequent abnormality found in patients with glycine encephalopathy (NKH)."	7.72	Molecular genetic and potential biochemical characteristics of patients with T-protein deficiency as a cause of glycine encephalopathy (NKH). ( Applegarth, DA; Coulter-Mackie, MB; Lee, G; Levy, HL; Toone, JR, 2003)
"An asphyxiated neonate with pyridoxine-dependent seizures and associated transient nonketotic hyperglycinemia is reported."	7.70	Transient nonketotic hyperglycinemia in an asphyxiated patient with pyridoxine-dependent seizures. ( Goto, K; Inutsuka, M; Izumi, T; Maeda, T, 2000)
"Glycine is a major neurotransmitter that activates inhibitory glycine receptors and is a co-agonist for excitatory glutamatergic N-methyl-D-aspartate (NMDA) receptors."	5.43	Loss of Glycine Transporter 1 Causes a Subtype of Glycine Encephalopathy with Arthrogryposis and Mildly Elevated Cerebrospinal Fluid Glycine. ( Armbruster, A; Baris, HN; Ekhilevitch, N; Eulenburg, V; Hannappel, E; Hauf, K; Hershkovitz, D; Hershkovitz, T; Ilivitzki, A; Kurolap, A; Mahajnah, M; Mandel, H; Mory, A; Nijem, Y; Paperna, T; Sella, E; Tal, G, 2016)
"Glycine encephalopathy, also known as nonketotic hyperglycinemia (NKH), is an inherited neurometabolic disorder with variable clinical course and severity, ranging from infantile epileptic encephalopathy to psychiatric disorders."	4.12	Integrative Approach to Predict Severity in Nonketotic Hyperglycinemia. ( Cortès-Saladelafont, E; Garbade, SF; García-Cazorla, Á; García-Jiménez, MC; Guder, P; Hoffmann, GF; Honzík, T; Horvath, G; Ibáñez, S; Jeltsch, K; Juliá-Palacios, NA; Kulhánek, J; Kuseyri Hübschmann, O; Kuster, A; Olivella, M; Opladen, T; Pearson, TS; Santer, R; Zafeiriou, DI, 2022)
"GLYT1 encephalopathy is a form of glycine encephalopathy caused by disturbance of glycine transport."	4.02	GLYT1 encephalopathy: Further delineation of disease phenotype and discussion of pathophysiological mechanisms. ( Casellas-Vidal, D; Diego-Álvarez, D; Espuña-Capote, N; García-González, MDM; Mademont-Soler, I; Maroto, A; Obón, M; Perapoch, J; Queralt, X; Ruiz, MD; Trujillo, A, 2021)
"Delayed emergence from anesthesia was previously reported in a case study of a child with Glycine Encephalopathy."	4.02	Elevated preoptic brain activity in zebrafish glial glycine transporter mutants is linked to lethargy-like behaviors and delayed emergence from anesthesia. ( Bindernagel, R; Buglo, E; Dallman, JE; Engert, F; Kelz, MB; Meng, QC; Randlett, O; Sloan, SA; Stark, MJ; Sumathipala, SH; Syed, S; Venincasa, MJ; Yan, Q; Züchner, S, 2021)
"Nonketotic hyperglycinemia (NKH) or glycine encephalopathy is an autosomal recessive disorder of glycine metabolism resulting in an excessive accumulation of glycine in all body tissues, including the central nervous system."	3.91	Nonketotic Hyperglycinemia: Two Case Reports and Review. ( Al Futaisi, A; Al Murshidi, F; Al Thihli, K; Poothrikovil, RP, 2019)
"Glycine encephalopathy (GE), or nonketotic hyperglycinemia (NKH), is a rare recessive genetic disease caused by defective glycine cleavage and characterized by increased accumulation of glycine in all tissues."	3.88	Glycine decarboxylase deficiency-induced motor dysfunction in zebrafish is rescued by counterbalancing glycine synaptic level. ( Drapeau, P; Greene, NDE; Lepage, N; Leung, KY; Liao, M; Pena, IA; Riché, R; Samarut, É; Sarafoglou, K; Schimmenti, LA, 2018)
"Glycine cleavage system (GCS) catalyzes the degradation of glycine and disruption of its components encoded by GLDC, AMT and GCSH are the only known causes of glycine encephalopathy, also known as non-ketotic hyperglycinemia (NKH)."	3.83	Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans. ( Alfadhel, M; Alfares, A; Ali, QA; Alkuraya, F; Alrifai, MT; Arold, ST; Douglas, GV; Juusola, J; Mutairi, FA; Nashabat, M; Qahtani, HA; Shaalan, HA; Wierenga, K, 2016)
" The patient was found to have glycine encephalopathy resulting from a previously defined mutation in the GLDC gene."	3.80	Diagnosis of glycine encephalopathy in a pediatric patient by detection of a GLDC mutation during initial next generation DNA sequencing. ( Adıyaman, G; Biberoğlu, G; Çiftci, B; Ezgu, F; Gökmenoğlu, H; Hasanoğlu, A; Kasapkara, Ç; Küçükçongar, A; Topçu, B; Tümer, L, 2014)
"Classic neonatal-onset glycine encephalopathy (GE) is devastating and life threatening."	3.73	Mild glycine encephalopathy (NKH) in a large kindred due to a silent exonic GLDC splice mutation. ( Flusser, H; Galil, A; Korman, SH; Kure, S; Matsubara, Y; Sato, K, 2005)
"Glycine encephalopathy (GE) (non-ketotic hyperglycinemia) is an autosomal recessive neurometabolic disease caused by defective activity of the glycine cleavage system."	3.73	A single nucleotide substitution that abolishes the initiator methionine codon of the GLDC gene is prevalent among patients with glycine encephalopathy in Jerusalem. ( Ben-Neriah, Z; Boneh, A; Kanno, J; Korman, SH; Kure, S; Lerer, I; Matsubara, Y; Sato, K, 2005)
"A defect in the P-protein component of the glycine cleavage system has been the most frequent abnormality found in patients with glycine encephalopathy (NKH)."	3.72	Molecular genetic and potential biochemical characteristics of patients with T-protein deficiency as a cause of glycine encephalopathy (NKH). ( Applegarth, DA; Coulter-Mackie, MB; Lee, G; Levy, HL; Toone, JR, 2003)
" NKH is classically associated with neonatal apnea, lethargy, hypotonia, and seizures, followed by severe psychomotor retardation in those who survive."	3.72	Natural history of nonketotic hyperglycinemia in 65 patients. ( Applegarth, D; Hamosh, A; Hoover-Fong, JE; Shah, S; Toone, J; Van Hove, JL, 2004)
"An asphyxiated neonate with pyridoxine-dependent seizures and associated transient nonketotic hyperglycinemia is reported."	3.70	Transient nonketotic hyperglycinemia in an asphyxiated patient with pyridoxine-dependent seizures. ( Goto, K; Inutsuka, M; Izumi, T; Maeda, T, 2000)
"Glycine has multiple neurotransmitter functions in the central nervous system (CNS)."	2.43	Lessons from the knocked-out glycine transporters. ( Armsen, W; Betz, H; Eulenburg, V; Gomeza, J, 2006)
"Nonketotic hyperglycinemia is an autosomal recessive inborn error of glycine metabolism, characterized by deficient activity of the glycine cleavage enzyme system."	1.62	Genotypic and phenotypic features in Turkish patients with classic nonketotic hyperglycinemia. ( Bayrak, H; Ceylaner, S; Kasapkara, ÇS; Kılıç, M; Küçükcongar, A; Olgaç, A; Yıldız, Y; Yüksel, D; Zenciroğlu, A, 2021)
"High glycine (GLY) levels have been suggested to induce neurotoxic effects in the central nervous system of patients with nonketotic hyperglycinemia (NKH)."	1.48	Glycine Administration Alters MAPK Signaling Pathways and Causes Neuronal Damage in Rat Brain: Putative Mechanisms Involved in the Neurological Dysfunction in Nonketotic Hyperglycinemia. ( Fernandez Cardoso, GM; Gasparotto, J; Gelain, DP; Grings, M; Leipnitz, G; Moreira, JCF; Moura, AP; Parmeggiani, B; Seminotti, B; Wajner, M, 2018)
"This is the case for nonketotic hyperglycinemia (NKH), a Mendelian disorder causing seizures in neonates and early-infants, primarily due to mutations in the GLDC gene."	1.46	Nonketotic hyperglycinemia: Functional assessment of missense variants in GLDC to understand phenotypes of the disease. ( Abia, D; Arribas-Carreira, L; Bravo-Alonso, I; Couce, ML; Domingo, R; García-Cazorla, A; Morais, A; Navarrete, R; Pérez, B; Pérez-Cerdá, C; Perona, A; Ramos, MA; Rodríguez-Pombo, P; Swanson, MA; Ugarte, M; Van Hove, JLK, 2017)
"Glycine is a major neurotransmitter that activates inhibitory glycine receptors and is a co-agonist for excitatory glutamatergic N-methyl-D-aspartate (NMDA) receptors."	1.43	Loss of Glycine Transporter 1 Causes a Subtype of Glycine Encephalopathy with Arthrogryposis and Mildly Elevated Cerebrospinal Fluid Glycine. ( Armbruster, A; Baris, HN; Ekhilevitch, N; Eulenburg, V; Hannappel, E; Hauf, K; Hershkovitz, D; Hershkovitz, T; Ilivitzki, A; Kurolap, A; Mahajnah, M; Mandel, H; Mory, A; Nijem, Y; Paperna, T; Sella, E; Tal, G, 2016)
"Nonketotic hyperglycinemia is a neurometabolic disorder characterized by intellectual disability, seizures, and spasticity."	1.42	Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia. ( Applegarth, DA; Bjoraker, KJ; Coughlin, CR; Creadon-Swindell, G; Hennermann, JB; Mahieu, V; Matthijs, G; Scharer, GH; Spector, EB; Swanson, MA; Szerlong, HJ; Tong, S; Toone, JR; Van Hove, JL; Williams, K, 2015)
"We report 3 cases of nonketotic hyperglycinemia, 2 typical neonatal and 1 atypical, diagnosed in Pediatric Hospital of Coimbra, Portugal, and investigated at Laboratory of Biochemical Genetics in 2004 to 2010 (incidence 1:47 455; prevalence 1:782 951)."	1.39	Nonketotic hyperglycinemia: a cause of encephalopathy in children. ( Diogo, L; Garcia, P; Grazina, M; Henriques, R; Robalo, C; Simões, M; Veríssimo, C, 2013)
"Hyperglycinemia was induced in healthy vervet monkeys when treated with a single oral dose of 50 mg/kg valproate."	1.38	Paracetamol prevents hyperglycinemia in vervet monkeys treated with valproate. ( Bergh, JJ; Kotze, HF; Mienie, LJ; Terre'Blanche, G; Viljoen, J, 2012)
"The diagnosis of nonketotic hyperglycinemia is traditionally based on the finding of a raised cerebrospinal fluid-to-plasma-glycine ratio."	1.36	Intracerebral blood and MRS in neonatal nonketotic hyperglycinemia. ( Cheong, JL; Manley, BJ; Sokol, J, 2010)
"Patients affected by nonketotic hyperglycinemia (NKH) usually present severe neurological symptoms and suffer from acute episodes of intractable seizures with leukoencephalopathy."	1.35	Glycine provokes lipid oxidative damage and reduces the antioxidant defenses in brain cortex of young rats. ( Amaral, AU; Beskow, AP; Dutra Filho, CS; Fernandes, CG; Leipnitz, G; Seminotti, B; Solano, AF; Wajner, M, 2009)
"Nonketotic hyperglycinemia was confirmed enzymatically."	1.34	Late-onset nonketotic hyperglycinemia with leukodystrophy and an unusual clinical course. ( Carpenter, K; Chiong, MA; Procopis, P; Wilcken, B, 2007)
"His glycine index was 0."	1.34	Neonatal nonketotic hyperglycinemia. ( Bhamkar, RP; Colaco, P, 2007)
"The glycine index is a stable, individually specific parameter in patients with NKH."	1.33	Benzoate treatment and the glycine index in nonketotic hyperglycinaemia. ( De Becker, M; Declercq, P; Hennermann, JB; Jaeken, J; Kishnani, PS; Mahieu, V; Mertens, S; Van Hove, JL; Vande Kerckhove, K, 2005)
"Neonatal-type nonketotic hyperglycinemia treatment remains unsatisfactory, even if started early."	1.32	Poor outcome for neonatal-type nonketotic hyperglycinemia treated with high-dose sodium benzoate and dextromethorphan. ( Chien, YH; Chou, SP; Hsu, CC; Huang, A; Hwu, WL; Lee, WT; Lu, FL, 2004)
"Three of four nonketotic hyperglycinemia patients homozygous for a novel GLDC mutation (A802V) were treated by assisted respiration and/or sodium benzoate with or without ketamine and had transient neonatal or absent symptoms and normal developmental outcome, despite persisting biochemical evidence of nonketotic hyperglycinemia."	1.32	Persistent NKH with transient or absent symptoms and a homozygous GLDC mutation. ( Boneh, A; Ergaz, Z; Gomori, JM; Gutman, A; Ichinohe, A; Kojima, K; Korman, SH; Kure, S; Sato, K, 2004)
"Nonketotic hyperglycinemia is a life-threatening disorder in neonates characterized by a deficiency of the glycine cleavage system."	1.31	Magnetic resonance spectroscopy study of glycine pathways in nonketotic hyperglycinemia. ( Chabrol, B; Confort-Gouny, S; Cozzone, PJ; Nicoli, F; Viola, A; Viout, P, 2002)
"Inherited deficiency of the GCS causes nonketotic hyperglycinemia (NKH), an inborn error of glycine metabolism."	1.31	Structure and expression of the glycine cleavage system in rat central nervous system. ( Aoki, Y; Hisanaga, K; Kojima, K; Kondo, H; Kure, S; Matsubara, Y; Owada, Y; Sakata, Y; Sato, K; Satoh, J; Shinka, T; Suzuki, Y, 2001)
"This leukoencephalopathy has an autosomal-recessive mode of inheritance."	1.30	Increased cerebrospinal fluid glycine: a biochemical marker for a leukoencephalopathy with vanishing white matter. ( Gabreëls, FJ; Jaeken, J; Kure, S; van der Knaap, MS; van Raaij-Selten, B; Verhoeven, NM; Wevers, RA, 1999)
"The diagnosis of nonketotic hyperglycinemia is considered to depend upon the presence of increased cerebrospinal fluid glycine and an increased cerebrospinal fluid to plasma glycine ratio."	1.30	Atypical nonketotic hyperglycinemia with normal cerebrospinal fluid to plasma glycine ratio. ( Applegarth, DA; Jackson, AH; Kure, S; Levy, HL; Toone, JR, 1999)

Research

Studies (75)

Timeframe	Studies, this research(%)	All Research%
pre-1990	0 (0.00)	18.7374
1990's	3 (4.00)	18.2507
2000's	29 (38.67)	29.6817
2010's	30 (40.00)	24.3611
2020's	13 (17.33)	2.80

Timeframe

Studies, this research(%)

All Research%

pre-1990

0 (0.00)

18.7374

1990's

3 (4.00)

18.2507

2000's

29 (38.67)

29.6817

2010's

30 (40.00)

24.3611

2020's

13 (17.33)

2.80

Authors

Authors	Studies
Swanson, MA	6
Miller, K	1
Young, SP	1
Tong, S	2
Ghaloul-Gonzalez, L	1
Neira-Fresneda, J	1
Schlichting, L	1
Peck, C	1
Gabel, L	1
Friederich, MW	2
Van Hove, JLK	7
Kuseyri Hübschmann, O	1
Juliá-Palacios, NA	1
Olivella, M	1
Guder, P	1
Zafeiriou, DI	1
Horvath, G	1
Kulhánek, J	1
Pearson, TS	1
Kuster, A	1
Cortès-Saladelafont, E	1
Ibáñez, S	1
García-Jiménez, MC	1
Honzík, T	1
Santer, R	2
Jeltsch, K	1
Garbade, SF	1
Hoffmann, GF	1
Opladen, T	1
García-Cazorla, Á	2
Arribas-Carreira, L	2
Dallabona, C	1
Farris, J	2
Østergaard, E	1
Tsiakas, K	1
Hempel, M	1
Aquaviva-Bourdain, C	1
Koutsoukos, S	1
Stence, NV	3
Magistrati, M	1
Spector, EB	2
Kronquist, K	3
Christensen, M	1
Karstensen, HG	1
Feichtinger, RG	1
Achleitner, MT	1
Lawrence Merritt Ii, J	1
Pérez, B	2
Ugarte, M	3
Grünewald, S	1
Riela, AR	1
Julve, N	1
Arnoux, JB	1
Haldar, K	2
Donnini, C	1
Lund, AM	1
Mayr, JA	1
Rodriguez-Pombo, P	3
Shelkowitz, E	2
Saneto, RP	2
Al-Hertani, W	2
Lubout, CMA	2
Brown, MS	2
Long, P	2
Walleigh, D	2
Nelson, JA	2
Perez, FE	2
Shaw, DWW	2
Michl, EJ	2
Poothrikovil, RP	1
Al Thihli, K	1
Al Futaisi, A	1
Al Murshidi, F	1
Nasrallah, F	2
Ben Chehida, A	1
Kraoua, I	1
Hadj-Taieb, S	2
Sanhaji, H	2
Tebib, N	2
Feki, M	2
Kaabachi, N	2
Leung, KY	3
De Castro, SCP	1
Santos, C	1
Savery, D	2
Prunty, H	2
Gold-Diaz, D	1
Bennett, S	1
Heales, S	2
Copp, AJ	2
Greene, NDE	2
Ichikawa, K	1
Inami, Y	1
Kaneko, K	1
Chehida, AB	1
Jelassi, A	1
Ben Massoued, S	1
Charfi, M	1
Zidi, W	1
Amri, F	1
Helel, KB	1
Mejaoual, H	1
Seboui, H	1
Mahdhaoui, N	1
Gargouri, A	1
Monastiri, K	1
Turki, I	1
Cheour, M	1
Mademont-Soler, I	1
Casellas-Vidal, D	1
Trujillo, A	1
Espuña-Capote, N	1
Maroto, A	1
García-González, MDM	1
Ruiz, MD	1
Diego-Álvarez, D	1
Queralt, X	1
Perapoch, J	1
Obón, M	1
Alam, MS	1
Rajashekara, AM	1
Venincasa, MJ	1
Randlett, O	1
Sumathipala, SH	1
Bindernagel, R	1
Stark, MJ	1
Yan, Q	1
Sloan, SA	1
Buglo, E	1
Meng, QC	1
Engert, F	1
Züchner, S	1
Kelz, MB	1
Syed, S	1
Dallman, JE	1
Bayrak, H	1
Yıldız, Y	1
Olgaç, A	1
Kasapkara, ÇS	1
Küçükcongar, A	2
Zenciroğlu, A	1
Yüksel, D	1
Ceylaner, S	2
Kılıç, M	1
Majethia, P	1
Somashekar, PH	1
Hebbar, M	1
Kadavigere, R	1
Praveen, BK	1
Girisha, KM	1
Shukla, A	1
Scalais, E	1
Osterheld, E	1
Weitzel, C	1
De Meirleir, L	1
Mataigne, F	1
Martens, G	1
Shaikh, TH	1
Coughlin, CR	3
Yu, HC	1
Swanson, M	1
Scharer, G	1
Helbling, D	1
Wendt-Andrae, J	1
Garcia, SM	1
Spector, E	2
Creadon-Swindell, G	3
Walter, M	1
Christensen, E	1
Sass, JO	1
Lin, Y	1
Zheng, Z	1
Sun, W	1
Fu, Q	1
Sato, K	5
Riché, R	1
Liao, M	1
Pena, IA	1
Lepage, N	1
Sarafoglou, K	1
Schimmenti, LA	1
Drapeau, P	1
Samarut, É	1
Magwebu, ZE	1
Mazinu, M	1
Abdul-Rasool, S	1
Chauke, CG	1
Knaepper-Martin, S	1
Boix, H	1
Ezgu, F	1
Çiftci, B	1
Topçu, B	1
Adıyaman, G	1
Gökmenoğlu, H	1
Kasapkara, Ç	1
Biberoğlu, G	1
Tümer, L	1
Hasanoğlu, A	1
Yilmaz, BS	1
Kor, D	1
Mert, GG	1
Incecik, F	1
Kartal, E	1
Mungan, NO	1
Pai, YJ	1
Hutchin, T	2
Brosnan, ME	1
Brosnan, JT	1
Greene, ND	1
Tsurusaki, Y	1
Tanaka, R	1
Shimada, S	1
Shimojima, K	1
Shiina, M	1
Nakashima, M	1
Saitsu, H	1
Miyake, N	1
Ogata, K	1
Yamamoto, T	1
Matsumoto, N	1
Scharer, GH	2
Szerlong, HJ	1
Bjoraker, KJ	1
Mahieu, V	3
Matthijs, G	2
Hennermann, JB	2
Applegarth, DA	6
Toone, JR	6
Williams, K	1
Van Hove, JL	4
Acquaviva, C	1
Väisänen, ML	1
Brás-Goldberg, AM	1
Rahikkala, E	1
Moilanen, JS	1
Bravo-Alonso, I	2
Pérez-Cerdá, C	2
Vianey-Saban, C	1
Contreras-Roura, J	1
Camayd-Viera, I	1
Padrón-Díaz, AD	1
Martínez-Rey, L	1
Alfadhel, M	1
Nashabat, M	1
Qahtani, HA	1
Alfares, A	1
Mutairi, FA	1
Shaalan, HA	1
Douglas, GV	1
Wierenga, K	1
Juusola, J	1
Alrifai, MT	1
Arold, ST	1
Alkuraya, F	1
Ali, QA	1
Kurolap, A	1
Armbruster, A	1
Hershkovitz, T	1
Hauf, K	1
Mory, A	1
Paperna, T	1
Hannappel, E	1
Tal, G	1
Nijem, Y	1
Sella, E	1
Mahajnah, M	1
Ilivitzki, A	1
Hershkovitz, D	1
Ekhilevitch, N	1
Mandel, H	2
Eulenburg, V	2
Baris, HN	1
Moura, AP	1
Parmeggiani, B	1
Gasparotto, J	1
Grings, M	1
Fernandez Cardoso, GM	1
Seminotti, B	3
Moreira, JCF	1
Gelain, DP	1
Wajner, M	3
Leipnitz, G	3
Navarrete, R	1
Perona, A	1
Abia, D	1
Couce, ML	1
Morais, A	1
Domingo, R	1
Ramos, MA	1
Solano, AF	1
Amaral, AU	2
Fernandes, CG	2
Beskow, AP	1
Dutra Filho, CS	1
Manley, BJ	1
Sokol, J	1
Cheong, JL	1
Meyer, S	1
Shamdeen, MG	1
Furtwängler, R	1
Gottschling, S	1
Gortner, L	1
Suzuki, Y	3
Kure, S	10
Oota, M	1
Hino, H	1
Fukuda, M	1
August, DA	1
Nguyen, HG	1
Aburahma, S	1
Khassawneh, M	1
Griebel, M	1
Sharp, G	1
Gibson, J	1
Brunel-Guitton, C	1
Casey, B	1
Coulter-Mackie, M	1
Vallance, H	1
Hewes, D	1
Stockler-Ipsiroglu, S	1
Mercimek-Mahmutoglu, S	1
Knebel, LA	1
da Rosa, MS	1
Eichler, P	1
Viljoen, J	1
Bergh, JJ	1
Mienie, LJ	1
Kotze, HF	1
Terre'Blanche, G	1
Veríssimo, C	1
Garcia, P	1
Simões, M	1
Robalo, C	1
Henriques, R	1
Diogo, L	1
Grazina, M	1
Madu, AE	1
Oliver, L	1
Viola, A	1
Chabrol, B	1
Nicoli, F	1
Confort-Gouny, S	1
Viout, P	1
Cozzone, PJ	1
Korman, SH	4
Gutman, A	2
Paupe, A	1
Bidat, L	1
Sonigo, P	1
Lenclen, R	1
Molho, M	1
Ville, Y	1
Levy, HL	2
Coulter-Mackie, MB	3
Lee, G	1
Chien, YH	1
Hsu, CC	1
Huang, A	1
Chou, SP	1
Lu, FL	1
Lee, WT	1
Hwu, WL	1
Boneh, A	2
Ichinohe, A	1
Kojima, K	3
Ergaz, Z	1
Gomori, JM	1
Hoover-Fong, JE	1
Shah, S	1
Applegarth, D	1
Toone, J	1
Hamosh, A	1
Atay, E	1
Bozaykut, A	1
Sezer, G	1
Flusser, H	1
Matsubara, Y	5
Galil, A	1
Kanno, J	1
Lerer, I	1
Ben-Neriah, Z	1
Okamura-Ikeda, K	1
Hosaka, H	1
Yoshimura, M	1
Yamashita, E	1
Toma, S	1
Nakagawa, A	1
Fujiwara, K	1
Motokawa, Y	1
Taniguchi, H	1
Kaźmierczuk-Skubis, ME	1
Zatorska-Karpuś, M	1
Pac-Kozuchowska, E	1
Bojko-Jaworska, J	1
Furmaga-Jabłońska, W	1
Vande Kerckhove, K	1
Declercq, P	1
Mertens, S	1
De Becker, M	1
Kishnani, PS	1
Jaeken, J	2
Conter, C	1
Rolland, MO	2
Cheillan, D	1
Bonnet, V	1
Maire, I	1
Froissart, R	1
Gomeza, J	1
Armsen, W	1
Betz, H	1
Liu, CM	1
Fan, SZ	1
Tan, ES	1
Wiley, V	1
Carpenter, K	2
Wilcken, B	2
Chiong, MA	1
Procopis, P	1
Bhamkar, RP	1
Colaco, P	1
Lang, TF	1
Parr, JR	1
Matthews, EE	1
Gray, RG	1
Bonham, JR	1
Kay, JD	1
Leisti, J	1
Sakata, Y	3
Tada, K	1
Narisawa, K	2
Jackson, AH	1
van der Knaap, MS	1
Wevers, RA	1
Gabreëls, FJ	1
Verhoeven, NM	1
van Raaij-Selten, B	1
Maeda, T	1
Inutsuka, M	1
Goto, K	1
Izumi, T	1
James, ER	2
Gabis, L	1
Parton, P	1
Roche, P	1
Lenn, N	1
Tudorica, A	1
Huang, W	1
Kudo, T	1
Kanno, K	1
Aoki, Y	2
Shinka, T	2
Owada, Y	1
Hisanaga, K	1
Satoh, J	1
Kondo, H	1
Huisman, TA	1
Thiel, T	1
Steinmann, B	1
Zeilinger, G	1
Martin, E	1

Studies

Swanson, MA

Miller, K

Young, SP

Tong, S

Ghaloul-Gonzalez, L

Neira-Fresneda, J

Schlichting, L

Peck, C

Gabel, L

Friederich, MW

Van Hove, JLK

Kuseyri Hübschmann, O

Juliá-Palacios, NA

Olivella, M

Guder, P

Zafeiriou, DI

Horvath, G

Kulhánek, J

Pearson, TS

Kuster, A

Cortès-Saladelafont, E

Ibáñez, S

García-Jiménez, MC

Honzík, T

Santer, R

Jeltsch, K

Garbade, SF

Hoffmann, GF

Opladen, T

García-Cazorla, Á

Arribas-Carreira, L

Dallabona, C

Farris, J

Østergaard, E

Tsiakas, K

Hempel, M

Aquaviva-Bourdain, C

Koutsoukos, S

Stence, NV

Magistrati, M

Spector, EB

Kronquist, K

Christensen, M

Karstensen, HG

Feichtinger, RG

Achleitner, MT

Lawrence Merritt Ii, J

Pérez, B

Ugarte, M

Grünewald, S

Riela, AR

Julve, N

Arnoux, JB

Haldar, K

Donnini, C

Lund, AM

Mayr, JA

Rodriguez-Pombo, P

Shelkowitz, E

Saneto, RP

Al-Hertani, W

Lubout, CMA

Brown, MS

Long, P

Walleigh, D

Nelson, JA

Perez, FE

Shaw, DWW

Michl, EJ

Poothrikovil, RP

Al Thihli, K

Al Futaisi, A

Al Murshidi, F

Nasrallah, F

Ben Chehida, A

Kraoua, I

Hadj-Taieb, S

Sanhaji, H

Tebib, N

Feki, M

Kaabachi, N

Leung, KY

De Castro, SCP

Santos, C

Savery, D

Prunty, H

Gold-Diaz, D

Bennett, S

Heales, S

Copp, AJ

Greene, NDE

Ichikawa, K

Inami, Y

Kaneko, K

Chehida, AB

Jelassi, A

Ben Massoued, S

Charfi, M

Zidi, W

Amri, F

Helel, KB

Mejaoual, H

Seboui, H

Mahdhaoui, N

Gargouri, A

Monastiri, K

Turki, I

Cheour, M

Mademont-Soler, I

Casellas-Vidal, D

Trujillo, A

Espuña-Capote, N

Maroto, A

García-González, MDM

Ruiz, MD

Diego-Álvarez, D

Queralt, X

Perapoch, J

Obón, M

Alam, MS

Rajashekara, AM

Venincasa, MJ

Randlett, O

Sumathipala, SH

Bindernagel, R

Stark, MJ

Yan, Q

Sloan, SA

Buglo, E

Meng, QC

Engert, F

Züchner, S

Kelz, MB

Syed, S

Dallman, JE

Bayrak, H

Yıldız, Y

Olgaç, A

Kasapkara, ÇS

Küçükcongar, A

Zenciroğlu, A

Yüksel, D

Ceylaner, S

Kılıç, M

Majethia, P

Somashekar, PH

Hebbar, M

Kadavigere, R

Praveen, BK

Girisha, KM

Shukla, A

Scalais, E

Osterheld, E

Weitzel, C

De Meirleir, L

Mataigne, F

Martens, G

Shaikh, TH

Coughlin, CR

Yu, HC

Swanson, M

Scharer, G

Helbling, D

Wendt-Andrae, J

Garcia, SM

Spector, E

Creadon-Swindell, G

Walter, M

Christensen, E

Sass, JO

Lin, Y

Zheng, Z

Sun, W

Fu, Q

Sato, K

Riché, R

Liao, M

Pena, IA

Lepage, N

Sarafoglou, K

Schimmenti, LA

Drapeau, P

Samarut, É

Magwebu, ZE

Mazinu, M

Abdul-Rasool, S

Chauke, CG

Knaepper-Martin, S

Boix, H

Ezgu, F

Çiftci, B

Topçu, B

Adıyaman, G

Gökmenoğlu, H

Kasapkara, Ç

Biberoğlu, G

Tümer, L

Hasanoğlu, A

Yilmaz, BS

Kor, D

Mert, GG

Incecik, F

Kartal, E

Mungan, NO

Pai, YJ

Hutchin, T

Brosnan, ME

Brosnan, JT

Greene, ND

Tsurusaki, Y

Tanaka, R

Shimada, S

Shimojima, K

Shiina, M

Nakashima, M

Saitsu, H

Miyake, N

Ogata, K

Yamamoto, T

Matsumoto, N

Scharer, GH

Szerlong, HJ

Bjoraker, KJ

Mahieu, V

Matthijs, G

Hennermann, JB

Applegarth, DA

Toone, JR

Williams, K

Van Hove, JL

Acquaviva, C

Väisänen, ML

Brás-Goldberg, AM

Rahikkala, E

Moilanen, JS

Bravo-Alonso, I

Pérez-Cerdá, C

Vianey-Saban, C

Contreras-Roura, J

Camayd-Viera, I

Padrón-Díaz, AD

Martínez-Rey, L

Alfadhel, M

Nashabat, M

Qahtani, HA

Alfares, A

Mutairi, FA

Shaalan, HA

Douglas, GV

Wierenga, K

Juusola, J

Alrifai, MT

Arold, ST

Alkuraya, F

Ali, QA

Kurolap, A

Armbruster, A

Hershkovitz, T

Hauf, K

Mory, A

Paperna, T

Hannappel, E

Tal, G

Nijem, Y

Sella, E

Mahajnah, M

Ilivitzki, A

Hershkovitz, D

Ekhilevitch, N

Mandel, H

Eulenburg, V

Baris, HN

Moura, AP

Parmeggiani, B

Gasparotto, J

Grings, M

Fernandez Cardoso, GM

Seminotti, B

Moreira, JCF

Gelain, DP

Wajner, M

Leipnitz, G

Navarrete, R

Perona, A

Abia, D

Couce, ML

Morais, A

Domingo, R

Ramos, MA

Solano, AF

Amaral, AU

Fernandes, CG

Beskow, AP

Dutra Filho, CS

Manley, BJ

Sokol, J

Cheong, JL

Meyer, S

Shamdeen, MG

Furtwängler, R

Gottschling, S

Gortner, L

Suzuki, Y

Kure, S

Oota, M

Hino, H

Fukuda, M

August, DA

Nguyen, HG

Aburahma, S

Khassawneh, M

Griebel, M

Sharp, G

Gibson, J

Brunel-Guitton, C

Casey, B

Coulter-Mackie, M

Vallance, H

Hewes, D

Stockler-Ipsiroglu, S

Mercimek-Mahmutoglu, S

Knebel, LA

da Rosa, MS

Eichler, P

Viljoen, J

Bergh, JJ

Mienie, LJ

Kotze, HF

Terre'Blanche, G

Veríssimo, C

Garcia, P

Simões, M

Robalo, C

Henriques, R

Diogo, L

Grazina, M

Madu, AE

Oliver, L

Viola, A

Chabrol, B

Nicoli, F

Confort-Gouny, S

Viout, P

Cozzone, PJ

Korman, SH

Gutman, A

Paupe, A

Bidat, L

Sonigo, P

Lenclen, R

Molho, M

Ville, Y

Levy, HL

Coulter-Mackie, MB

Lee, G

Chien, YH

Hsu, CC

Huang, A

Chou, SP

Lu, FL

Lee, WT

Hwu, WL

Boneh, A

Ichinohe, A

Kojima, K

Ergaz, Z

Gomori, JM

Hoover-Fong, JE

Shah, S

Applegarth, D

Toone, J

Hamosh, A

Atay, E

Bozaykut, A

Sezer, G

Flusser, H

Matsubara, Y

Galil, A

Kanno, J

Lerer, I

Ben-Neriah, Z

Okamura-Ikeda, K

Hosaka, H

Yoshimura, M

Yamashita, E

Toma, S

Nakagawa, A

Fujiwara, K

Motokawa, Y

Taniguchi, H

Kaźmierczuk-Skubis, ME

Zatorska-Karpuś, M

Pac-Kozuchowska, E

Bojko-Jaworska, J

Furmaga-Jabłońska, W

Vande Kerckhove, K

Declercq, P

Mertens, S

De Becker, M

Kishnani, PS

Jaeken, J

Conter, C

Rolland, MO

Cheillan, D

Bonnet, V

Maire, I

Froissart, R

Gomeza, J

Armsen, W

Betz, H

Liu, CM

Fan, SZ

Tan, ES

Wiley, V

Carpenter, K

Wilcken, B

Chiong, MA

Procopis, P

Bhamkar, RP

Colaco, P

Lang, TF

Parr, JR

Matthews, EE

Gray, RG

Bonham, JR

Kay, JD

Leisti, J

Sakata, Y

Tada, K

Narisawa, K

Jackson, AH

van der Knaap, MS

Wevers, RA

Gabreëls, FJ

Verhoeven, NM

van Raaij-Selten, B

Maeda, T

Inutsuka, M

Goto, K

Izumi, T

James, ER

Gabis, L

Parton, P

Roche, P

Lenn, N

Tudorica, A

Huang, W

Kudo, T

Kanno, K

Aoki, Y

Shinka, T

Owada, Y

Hisanaga, K

Satoh, J

Kondo, H

Huisman, TA

Thiel, T

Steinmann, B

Zeilinger, G

Martin, E

Clinical Trials (1)

Trial Overview

Trial	Phase	Enrollment	Study Type	Start Date	Status
The Effects of Glycine Transport Inhibition on Brain Glycine Concentration[NCT00538070]		68 participants (Actual)	Interventional	2007-08-31	Completed
[information is prepared from clinicaltrials.gov, extracted Sep-2024]

Trial

Phase

Enrollment

Study Type

Start Date

Status

The Effects of Glycine Transport Inhibition on Brain Glycine Concentration[NCT00538070]

68 participants (Actual)

Interventional

2007-08-31

Completed

[information is prepared from clinicaltrials.gov, extracted Sep-2024]

Reviews

4 reviews available for glycine and Glycine Encephalopathy

Article	Year
[Amplitude-integrated electroencephalography in non-ketotic hyperglycinaemia]. Revista de neurologia, 2014, Jan-01, Volume: 58, Issue:1 Topics: Carnitine; Consanguinity; Dextromethorphan; Drug Therapy, Combination; Early Diagnosis; Electroencep	2014
Two novel laboratory tests facilitating diagnosis of glycine encephalopathy (nonketotic hyperglycinemia). Brain & development, 2011, Volume: 33, Issue:9 Topics: Breath Tests; Carbon Radioisotopes; Glycine; Glycine Dehydrogenase (Decarboxylating); Humans; Hyperg	2011
Non-ketotic hyperglycinaemia: case report and review of medical literature. The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians, 2013, Volume: 26, Issue:5 Topics: Adult; Diagnosis, Differential; Fatal Outcome; Female; Gestational Age; Glycine; Hiccup; Humans; Hyp	2013
Lessons from the knocked-out glycine transporters. Handbook of experimental pharmacology, 2006, Issue:175 Topics: Animals; Brain; Disease Models, Animal; Gene Expression Regulation; Glycine; Glycine Plasma Membrane	2006

Article

Year

[Amplitude-integrated electroencephalography in non-ketotic hyperglycinaemia].

Revista de neurologia, 2014, Jan-01, Volume: 58, Issue:1

Topics: Carnitine; Consanguinity; Dextromethorphan; Drug Therapy, Combination; Early Diagnosis; Electroencep

2014

Two novel laboratory tests facilitating diagnosis of glycine encephalopathy (nonketotic hyperglycinemia).

Brain & development, 2011, Volume: 33, Issue:9

Topics: Breath Tests; Carbon Radioisotopes; Glycine; Glycine Dehydrogenase (Decarboxylating); Humans; Hyperg

2011

Non-ketotic hyperglycinaemia: case report and review of medical literature.

The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians, 2013, Volume: 26, Issue:5

Topics: Adult; Diagnosis, Differential; Fatal Outcome; Female; Gestational Age; Glycine; Hiccup; Humans; Hyp

2013

Lessons from the knocked-out glycine transporters.

Handbook of experimental pharmacology, 2006, Issue:175

Topics: Animals; Brain; Disease Models, Animal; Gene Expression Regulation; Glycine; Glycine Plasma Membrane

2006

Other Studies

71 other studies available for glycine and Glycine Encephalopathy

Article	Year
Cerebrospinal fluid amino acids glycine, serine, and threonine in nonketotic hyperglycinemia. Journal of inherited metabolic disease, 2022, Volume: 45, Issue:4 Topics: Amino Acids; Cross-Sectional Studies; Glycine; Humans; Hyperglycinemia, Nonketotic; Infant, Newborn;	2022
Integrative Approach to Predict Severity in Nonketotic Hyperglycinemia. Annals of neurology, 2022, Volume: 92, Issue:2 Topics: Glycine; Humans; Hyperglycinemia, Nonketotic; Mutation; Phenotype	2022
Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency. Human molecular genetics, 2023, 03-06, Volume: 32, Issue:6 Topics: Exons; Glycine; Humans; Hyperglycinemia, Nonketotic; Mutation; Proteins	2023
Ketogenic diet as a glycine lowering therapy in nonketotic hyperglycinemia and impact on brain glycine levels. Orphanet journal of rare diseases, 2022, 12-05, Volume: 17, Issue:1 Topics: Benzoates; Brain; Diet, Ketogenic; Glycine; Humans; Hyperglycinemia, Nonketotic; Infant	2022
Ketogenic diet as a glycine lowering therapy in nonketotic hyperglycinemia and impact on brain glycine levels. Orphanet journal of rare diseases, 2022, 12-05, Volume: 17, Issue:1 Topics: Benzoates; Brain; Diet, Ketogenic; Glycine; Humans; Hyperglycinemia, Nonketotic; Infant	2022
Ketogenic diet as a glycine lowering therapy in nonketotic hyperglycinemia and impact on brain glycine levels. Orphanet journal of rare diseases, 2022, 12-05, Volume: 17, Issue:1 Topics: Benzoates; Brain; Diet, Ketogenic; Glycine; Humans; Hyperglycinemia, Nonketotic; Infant	2022
Ketogenic diet as a glycine lowering therapy in nonketotic hyperglycinemia and impact on brain glycine levels. Orphanet journal of rare diseases, 2022, 12-05, Volume: 17, Issue:1 Topics: Benzoates; Brain; Diet, Ketogenic; Glycine; Humans; Hyperglycinemia, Nonketotic; Infant	2022
Nonketotic Hyperglycinemia: Two Case Reports and Review. The Neurodiagnostic journal, 2019, Volume: 59, Issue:3 Topics: Agenesis of Corpus Callosum; Apnea; Brain; Brain Diseases; Electroencephalography; Fatal Outcome; Fe	2019
Non-ketotic hyperglycinaemia: a frequent, but poorly diagnosed and managed genetic disorder in Tunisia. Archives of disease in childhood, 2021, Volume: 106, Issue:3 Topics: Apnea; Chromatography, Ion Exchange; Coma; Consanguinity; Glycine; Humans; Hyperglycinemia, Nonketot	2021
Regulation of glycine metabolism by the glycine cleavage system and conjugation pathway in mouse models of non-ketotic hyperglycinemia. Journal of inherited metabolic disease, 2020, Volume: 43, Issue:6 Topics: Alleles; Animals; Brain; Glycine; Glycine Dehydrogenase (Decarboxylating); Hyperglycinemia, Nonketot	2020
Seventeen-year long-term survival of a case of neonatal nonketotic hyperglycinemia. Pediatrics international : official journal of the Japan Pediatric Society, 2020, Volume: 62, Issue:9 Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Glycine; Humans; Hyperglycinemia, Nonketotic; Infa	2020
Nonketotic Hyperglycinemia in Tunisia. Report upon a Series of 69 Patients. Neuropediatrics, 2020, Volume: 51, Issue:5 Topics: Age of Onset; Child, Preschool; Consanguinity; Female; Glycine; Humans; Hyperglycinemia, Nonketotic;	2020
GLYT1 encephalopathy: Further delineation of disease phenotype and discussion of pathophysiological mechanisms. American journal of medical genetics. Part A, 2021, Volume: 185, Issue:2 Topics: Abortion, Spontaneous; Arthrogryposis; Female; Genetic Predisposition to Disease; Glycine; Glycine P	2021
Genomic analyses of glycine decarboxylase neurogenic mutations yield a large-scale prediction model for prenatal disease. PLoS genetics, 2021, Volume: 17, Issue:2 Topics: Animals; Disease Models, Animal; Female; Genomics; Genotype; Glycine; Glycine Dehydrogenase (Decarbo	2021
Elevated preoptic brain activity in zebrafish glial glycine transporter mutants is linked to lethargy-like behaviors and delayed emergence from anesthesia. Scientific reports, 2021, 02-04, Volume: 11, Issue:1 Topics: Aminobenzoates; Anesthesia, General; Anesthetics; Animals; Animals, Genetically Modified; Craniotomy	2021
Genotypic and phenotypic features in Turkish patients with classic nonketotic hyperglycinemia. Metabolic brain disease, 2021, Volume: 36, Issue:6 Topics: Agenesis of Corpus Callosum; Amino Acid Oxidoreductases; Female; Genotype; Glycine; Humans; Hypergly	2021
Biallelic start loss variant, c.1A > G in GCSH is associated with variant nonketotic hyperglycinemia. Clinical genetics, 2021, Volume: 100, Issue:2 Topics: Child, Preschool; Female; Glycine; Glycine Decarboxylase Complex H-Protein; Humans; Hyperglycinemia,	2021
X-Linked Cobalamin Disorder (HCFC1) Mimicking Nonketotic Hyperglycinemia With Increased Both Cerebrospinal Fluid Glycine and Methylmalonic Acid. Pediatric neurology, 2017, Volume: 71 Topics: Biomarkers; Brain; Diagnosis, Differential; Genetic Diseases, X-Linked; Glycine; Humans; Hyperglycin	2017
d-Glyceric aciduria does not cause nonketotic hyperglycinemia: A historic co-occurrence. Molecular genetics and metabolism, 2017, Volume: 121, Issue:2 Topics: Amino Acid Oxidoreductases; Aminomethyltransferase; Carrier Proteins; Diagnosis, Differential; Epile	2017
A novel compound heterozygous variant identified in GLDC gene in a Chinese family with non-ketotic hyperglycinemia. BMC medical genetics, 2018, 01-05, Volume: 19, Issue:1 Topics: Amino Acid Sequence; Asian People; China; Exons; Female; Genetic Variation; Genotype; Glycine; Glyci	2018
Why does hyperglycinemia exhibit so grave brain anomalies and so severe neurological symptoms? Journal of theoretical biology, 2018, 10-14, Volume: 455 Topics: Brain; Cell Proliferation; DNA; Glycine; Humans; Hyperglycinemia, Nonketotic; Models, Neurological;	2018
Glycine decarboxylase deficiency-induced motor dysfunction in zebrafish is rescued by counterbalancing glycine synaptic level. JCI insight, 2018, 11-02, Volume: 3, Issue:21 Topics: Animals; Brain; CRISPR-Associated Protein 9; Dextromethorphan; Excitatory Amino Acid Antagonists; Fa	2018
The effect of hyperglycinemic treatment in captive-bred Vervet monkeys (Chlorocebus aethiops). Metabolic brain disease, 2019, Volume: 34, Issue:5 Topics: Animals; Chlorocebus aethiops; Dextromethorphan; Glycine; Hyperglycinemia, Nonketotic; Sodium Benzoa	2019
Diagnosis of glycine encephalopathy in a pediatric patient by detection of a GLDC mutation during initial next generation DNA sequencing. Metabolic brain disease, 2014, Volume: 29, Issue:1 Topics: Base Sequence; DNA Mutational Analysis; Female; Genes, Recessive; Glycine; Glycine Dehydrogenase (De	2014
Two novel missense mutations in nonketotic hyperglycinemia. Journal of child neurology, 2015, Volume: 30, Issue:6 Topics: Aminomethyltransferase; Epilepsies, Myoclonic; Female; Genetic Predisposition to Disease; Glycine; G	2015
Glycine decarboxylase deficiency causes neural tube defects and features of non-ketotic hyperglycinemia in mice. Nature communications, 2015, Mar-04, Volume: 6 Topics: Animals; Base Sequence; DNA Primers; Folic Acid; Formates; Galactosides; Gas Chromatography-Mass Spe	2015
Novel compound heterozygous LIAS mutations cause glycine encephalopathy. Journal of human genetics, 2015, Volume: 60, Issue:10 Topics: Adult; Exome; Female; Glycine; Heterozygote; Humans; Hyperglycinemia, Nonketotic; Mutation	2015
Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia. Annals of neurology, 2015, Volume: 78, Issue:4 Topics: Animals; Chlorocebus aethiops; COS Cells; Female; Glycine; Humans; Hyperglycinemia, Nonketotic; Infa	2015
The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT. Genetics in medicine : official journal of the American College of Medical Genetics, 2017, Volume: 19, Issue:1 Topics: Alleles; Aminomethyltransferase; Dihydrolipoamide Dehydrogenase; Exons; Female; Genetic Testing; Gen	2017
Biochemical diagnosis of nonketotic hyperglycinemia in Cuba. Neurologia, 2018, Volume: 33, Issue:8 Topics: Female; Glycine; Humans; Hyperglycinemia, Nonketotic; Infant; Infant, Newborn; Male	2018
Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans. Human genetics, 2016, Volume: 135, Issue:11 Topics: Amino Acid Oxidoreductases; Animals; Base Sequence; Carrier Proteins; Exome; Female; Glycine; Glycin	2016
Loss of Glycine Transporter 1 Causes a Subtype of Glycine Encephalopathy with Arthrogryposis and Mildly Elevated Cerebrospinal Fluid Glycine. American journal of human genetics, 2016, Nov-03, Volume: 99, Issue:5 Topics: Animals; Arthrogryposis; Child, Preschool; Female; Gene Deletion; Gene Expression Regulation; Glycin	2016
Glycine Administration Alters MAPK Signaling Pathways and Causes Neuronal Damage in Rat Brain: Putative Mechanisms Involved in the Neurological Dysfunction in Nonketotic Hyperglycinemia. Molecular neurobiology, 2018, Volume: 55, Issue:1 Topics: Animals; Brain; Corpus Striatum; Dizocilpine Maleate; Glial Fibrillary Acidic Protein; Glycine; Hype	2018
Nonketotic hyperglycinemia: Functional assessment of missense variants in GLDC to understand phenotypes of the disease. Human mutation, 2017, Volume: 38, Issue:6 Topics: Exons; Gene Expression Regulation, Enzymologic; Glycine; Glycine Dehydrogenase (Decarboxylating); Hu	2017
Glycine provokes lipid oxidative damage and reduces the antioxidant defenses in brain cortex of young rats. Cellular and molecular neurobiology, 2009, Volume: 29, Issue:2 Topics: Animals; Antioxidants; Cerebral Cortex; Cytoprotection; Dose-Response Relationship, Drug; Glutathion	2009
Intracerebral blood and MRS in neonatal nonketotic hyperglycinemia. Pediatric neurology, 2010, Volume: 42, Issue:3 Topics: Brain; Cerebral Hemorrhage; Female; Glycine; Hiccup; Humans; Hyperglycinemia, Nonketotic; Infant, Ne	2010
A floppy neonate with respiratory failure and burst suppression EEG (case presentation). Acta paediatrica (Oslo, Norway : 1992), 2010, Volume: 99, Issue:3 Topics: Diagnosis, Differential; Electroencephalography; Female; Glycine; Humans; Hyperglycinemia, Nonketoti	2010
Nonketotic hyperglycinemia: proposal of a diagnostic and treatment strategy. Pediatric neurology, 2010, Volume: 43, Issue:3 Topics: Glycine; Humans; Hyperglycinemia, Nonketotic; Infant, Newborn; Male	2010
Nitrous oxide for glycine encephalopathy. Paediatric anaesthesia, 2010, Volume: 20, Issue:10 Topics: Anesthesia, Inhalation; Anesthetics, Inhalation; Electroencephalography; Gastrostomy; Glycine; Human	2010
Pitfalls in measuring cerebrospinal fluid glycine levels in infants with encephalopathy. Journal of child neurology, 2011, Volume: 26, Issue:6 Topics: Child, Preschool; Female; Glycine; Humans; Hyperglycinemia, Nonketotic; Hypoxia, Brain; Infant; Magn	2011
Late-onset nonketotic hyperglycinemia caused by a novel homozygous missense mutation in the GLDC gene. Molecular genetics and metabolism, 2011, Volume: 103, Issue:2 Topics: Base Sequence; Child; Dextromethorphan; Excitatory Amino Acid Antagonists; Glycine; Glycine Dehydrog	2011
Glycine intrastriatal administration induces lipid and protein oxidative damage and alters the enzymatic antioxidant defenses in rat brain. Life sciences, 2011, Aug-15, Volume: 89, Issue:7-8 Topics: Animals; Brain; Corpus Striatum; Disease Models, Animal; Dizocilpine Maleate; Glycine; Glycine Agent	2011
Paracetamol prevents hyperglycinemia in vervet monkeys treated with valproate. Metabolic brain disease, 2012, Volume: 27, Issue:3 Topics: Acetaminophen; Analgesics, Non-Narcotic; Animals; Anticonvulsants; Chlorocebus aethiops; Disease Mod	2012
Nonketotic hyperglycinemia: a cause of encephalopathy in children. Journal of child neurology, 2013, Volume: 28, Issue:2 Topics: Child; Female; Glycine; Humans; Hyperglycinemia, Nonketotic; Intellectual Disability; Lennox Gastaut	2013
Magnetic resonance spectroscopy study of glycine pathways in nonketotic hyperglycinemia. Pediatric research, 2002, Volume: 52, Issue:2 Topics: Aspartic Acid; Brain; Child, Preschool; Dextromethorphan; Excitatory Amino Acid Antagonists; Female;	2002
Pitfalls in the diagnosis of glycine encephalopathy (non-ketotic hyperglycinemia). Developmental medicine and child neurology, 2002, Volume: 44, Issue:10 Topics: Anticonvulsants; Brain Diseases, Metabolic, Inborn; Child, Preschool; Chromosome Aberrations; Consan	2002
Prenatal diagnosis of hypoplasia of the corpus callosum in association with non-ketotic hyperglycinemia. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology, 2002, Volume: 20, Issue:6 Topics: Abnormalities, Multiple; Agenesis of Corpus Callosum; Amino Acid Metabolism, Inborn Errors; Electroe	2002
Molecular genetic and potential biochemical characteristics of patients with T-protein deficiency as a cause of glycine encephalopathy (NKH). Molecular genetics and metabolism, 2003, Volume: 79, Issue:4 Topics: Aminomethyltransferase; Base Sequence; Glycine; Herpesvirus 4, Human; Humans; Hydroxymethyl and Form	2003
Poor outcome for neonatal-type nonketotic hyperglycinemia treated with high-dose sodium benzoate and dextromethorphan. Journal of child neurology, 2004, Volume: 19, Issue:1 Topics: Brain; Child, Preschool; Chromosome Aberrations; Dextromethorphan; Diazepam; Disease Progression; Di	2004
Persistent NKH with transient or absent symptoms and a homozygous GLDC mutation. Annals of neurology, 2004, Volume: 56, Issue:1 Topics: Adult; Amino Acid Oxidoreductases; Child, Preschool; DNA Mutational Analysis; Excitatory Amino Acid	2004
Natural history of nonketotic hyperglycinemia in 65 patients. Neurology, 2004, Nov-23, Volume: 63, Issue:10 Topics: Adolescent; Age of Onset; Agenesis of Corpus Callosum; Anticonvulsants; Apnea; Child; Child, Prescho	2004
Four cases of neonatal non-ketotic hyperglycinaemia. Annals of tropical paediatrics, 2004, Volume: 24, Issue:4 Topics: Biomarkers; Fatal Outcome; Glycine; Humans; Hyperglycinemia, Nonketotic; Infant, Newborn; Male	2004
Mild glycine encephalopathy (NKH) in a large kindred due to a silent exonic GLDC splice mutation. Neurology, 2005, Apr-26, Volume: 64, Issue:8 Topics: Adolescent; Alternative Splicing; Arabs; Brain; Brain Chemistry; Child; Child, Preschool; Disease Pr	2005
A single nucleotide substitution that abolishes the initiator methionine codon of the GLDC gene is prevalent among patients with glycine encephalopathy in Jerusalem. Journal of human genetics, 2005, Volume: 50, Issue:5 Topics: Amino Acid Oxidoreductases; Amino Acid Substitution; Arabs; Codon, Initiator; Female; Glycine; Glyci	2005
Crystal structure of human T-protein of glycine cleavage system at 2.0 A resolution and its implication for understanding non-ketotic hyperglycinemia. Journal of molecular biology, 2005, Sep-02, Volume: 351, Issue:5 Topics: Amino Acid Sequence; Aminomethyltransferase; Animals; Arginine; Asparagine; Binding Sites; Catalytic	2005
Non-ketotic hyperglycinemia as the cause of infant seizures--the case study. Annales Universitatis Mariae Curie-Sklodowska. Sectio D: Medicina, 2004, Volume: 59, Issue:1 Topics: Brain; Diagnosis, Differential; Electroencephalography; Female; Follow-Up Studies; Glycine; Humans;	2004
Benzoate treatment and the glycine index in nonketotic hyperglycinaemia. Journal of inherited metabolic disease, 2005, Volume: 28, Issue:5 Topics: Adolescent; Age Factors; Age of Onset; Amino Acid Oxidoreductases; Anti-Infective Agents; Benzoates;	2005
Glycine encephalopathy (nonketotic hyperglycinemia): comments and speculations. American journal of medical genetics. Part A, 2006, Jan-15, Volume: 140, Issue:2 Topics: Aminomethyltransferase; Glycine; Glycine Dehydrogenase (Decarboxylating); Humans; Hyperglycinemia, N	2006
Genetic heterogeneity of the GLDC gene in 28 unrelated patients with glycine encephalopathy. Journal of inherited metabolic disease, 2006, Volume: 29, Issue:1 Topics: Alleles; Chromatography, High Pressure Liquid; DNA Mutational Analysis; DNA Primers; Female; Gene De	2006
Glycine encephalopathy and delayed emergence from anesthesia. Anesthesia and analgesia, 2006, Volume: 103, Issue:6 Topics: Anesthesia; Child, Preschool; Female; Glycine; Humans; Hyperglycinemia, Nonketotic	2006
Non-ketotic hyperglycinemia is usually not detectable by tandem mass spectrometry newborn screening. Molecular genetics and metabolism, 2007, Volume: 90, Issue:4 Topics: Glycine; Humans; Hyperglycinemia, Nonketotic; Infant; Infant, Newborn; Neonatal Screening; Tandem Ma	2007
Late-onset nonketotic hyperglycinemia with leukodystrophy and an unusual clinical course. Pediatric neurology, 2007, Volume: 37, Issue:4 Topics: Age of Onset; Brain Diseases, Metabolic; Cerebral Palsy; Child, Preschool; Female; Gait; Glycine; Hu	2007
Neonatal nonketotic hyperglycinemia. Indian journal of pediatrics, 2007, Volume: 74, Issue:12 Topics: Amino Acid Metabolism, Inborn Errors; Disease Progression; Fatal Outcome; Glycine; Humans; Hyperglyc	2007
Practical difficulties in the diagnosis of transient non-ketotic hyperglycinaemia. Developmental medicine and child neurology, 2008, Volume: 50, Issue:2 Topics: Amino Acids; Diagnosis, Differential; Female; Glycine; Humans; Hyperglycinemia, Nonketotic; Infant,	2008
Prenatal diagnosis of non-ketotic hyperglycinaemia: enzymatic diagnosis in 28 families and DNA diagnosis detecting prevalent Finnish and Israeli-Arab mutations. Prenatal diagnosis, 1999, Volume: 19, Issue:8 Topics: Amino Acid Oxidoreductases; Arabs; Carrier Proteins; Case-Control Studies; Chorionic Villi Sampling;	1999
Atypical nonketotic hyperglycinemia with normal cerebrospinal fluid to plasma glycine ratio. Journal of child neurology, 1999, Volume: 14, Issue:7 Topics: Adolescent; Child; Epilepsy, Complex Partial; Female; Glycine; Humans; Hyperglycinemia, Nonketotic;	1999
Increased cerebrospinal fluid glycine: a biochemical marker for a leukoencephalopathy with vanishing white matter. Journal of child neurology, 1999, Volume: 14, Issue:11 Topics: Adolescent; Adult; Biomarkers; Brain; Brain Diseases; Child; Child, Preschool; Excitatory Amino Acid	1999
Transient nonketotic hyperglycinemia in an asphyxiated patient with pyridoxine-dependent seizures. Pediatric neurology, 2000, Volume: 22, Issue:3 Topics: Asphyxia Neonatorum; Brain; Electroencephalography; Glycine; Humans; Hyperglycinemia, Nonketotic; In	2000
Biochemical and molecular investigations of patients with nonketotic hyperglycinemia. Molecular genetics and metabolism, 2000, Volume: 70, Issue:2 Topics: Amino Acid Sequence; DNA Mutational Analysis; DNA Primers; Exons; Female; Glycine; Homocysteine S-Me	2000
Recurrent mutations in P- and T-proteins of the glycine cleavage complex and a novel T-protein mutation (N145I): a strategy for the molecular investigation of patients with nonketotic hyperglycinemia (NKH). Molecular genetics and metabolism, 2001, Volume: 72, Issue:4 Topics: Amino Acid Oxidoreductases; Aminomethyltransferase; DNA Primers; Exons; Gene Frequency; Glycine; Gly	2001
In vivo 1H magnetic resonance spectroscopic measurement of brain glycine levels in nonketotic hyperglycinemia. Journal of neuroimaging : official journal of the American Society of Neuroimaging, 2001, Volume: 11, Issue:2 Topics: Aspartic Acid; Brain; Brain Diseases, Metabolic; Choline; Chromosome Aberrations; Chromosome Disorde	2001
Chromosomal localization, structure, single-nucleotide polymorphisms, and expression of the human H-protein gene of the glycine cleavage system (GCSH), a candidate gene for nonketotic hyperglycinemia. Journal of human genetics, 2001, Volume: 46, Issue:7 Topics: Alleles; Amino Acid Oxidoreductases; Base Sequence; Chromosome Mapping; Chromosomes, Human, Pair 16;	2001
Structure and expression of the glycine cleavage system in rat central nervous system. Brain research. Molecular brain research, 2001, Oct-19, Volume: 94, Issue:1-2 Topics: Age Factors; Amino Acid Oxidoreductases; Amino Acid Sequence; Animals; Astrocytes; Base Sequence; Br	2001
Proton magnetic resonance spectroscopy of the brain of a neonate with nonketotic hyperglycinemia: in vivo-in vitro (ex vivo) correlation. European radiology, 2002, Volume: 12, Issue:4 Topics: Brain; Brain Chemistry; Glycine; Humans; Hyperglycinemia, Nonketotic; Infant, Newborn; Magnetic Reso	2002

Article

Year

Cerebrospinal fluid amino acids glycine, serine, and threonine in nonketotic hyperglycinemia.

Journal of inherited metabolic disease, 2022, Volume: 45, Issue:4

Topics: Amino Acids; Cross-Sectional Studies; Glycine; Humans; Hyperglycinemia, Nonketotic; Infant, Newborn;

2022

Integrative Approach to Predict Severity in Nonketotic Hyperglycinemia.

Annals of neurology, 2022, Volume: 92, Issue:2

Topics: Glycine; Humans; Hyperglycinemia, Nonketotic; Mutation; Phenotype

2022

Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency.

Human molecular genetics, 2023, 03-06, Volume: 32, Issue:6

Topics: Exons; Glycine; Humans; Hyperglycinemia, Nonketotic; Mutation; Proteins

2023

Ketogenic diet as a glycine lowering therapy in nonketotic hyperglycinemia and impact on brain glycine levels.

Orphanet journal of rare diseases, 2022, 12-05, Volume: 17, Issue:1

Topics: Benzoates; Brain; Diet, Ketogenic; Glycine; Humans; Hyperglycinemia, Nonketotic; Infant

2022

Ketogenic diet as a glycine lowering therapy in nonketotic hyperglycinemia and impact on brain glycine levels.

Orphanet journal of rare diseases, 2022, 12-05, Volume: 17, Issue:1

Topics: Benzoates; Brain; Diet, Ketogenic; Glycine; Humans; Hyperglycinemia, Nonketotic; Infant

2022

Ketogenic diet as a glycine lowering therapy in nonketotic hyperglycinemia and impact on brain glycine levels.

Orphanet journal of rare diseases, 2022, 12-05, Volume: 17, Issue:1

Topics: Benzoates; Brain; Diet, Ketogenic; Glycine; Humans; Hyperglycinemia, Nonketotic; Infant

2022

Ketogenic diet as a glycine lowering therapy in nonketotic hyperglycinemia and impact on brain glycine levels.

Orphanet journal of rare diseases, 2022, 12-05, Volume: 17, Issue:1

Topics: Benzoates; Brain; Diet, Ketogenic; Glycine; Humans; Hyperglycinemia, Nonketotic; Infant

2022

Nonketotic Hyperglycinemia: Two Case Reports and Review.

The Neurodiagnostic journal, 2019, Volume: 59, Issue:3

Topics: Agenesis of Corpus Callosum; Apnea; Brain; Brain Diseases; Electroencephalography; Fatal Outcome; Fe

2019

Non-ketotic hyperglycinaemia: a frequent, but poorly diagnosed and managed genetic disorder in Tunisia.

Archives of disease in childhood, 2021, Volume: 106, Issue:3

Topics: Apnea; Chromatography, Ion Exchange; Coma; Consanguinity; Glycine; Humans; Hyperglycinemia, Nonketot

2021

Regulation of glycine metabolism by the glycine cleavage system and conjugation pathway in mouse models of non-ketotic hyperglycinemia.

Journal of inherited metabolic disease, 2020, Volume: 43, Issue:6

Topics: Alleles; Animals; Brain; Glycine; Glycine Dehydrogenase (Decarboxylating); Hyperglycinemia, Nonketot

2020

Seventeen-year long-term survival of a case of neonatal nonketotic hyperglycinemia.

Pediatrics international : official journal of the Japan Pediatric Society, 2020, Volume: 62, Issue:9

Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Glycine; Humans; Hyperglycinemia, Nonketotic; Infa

2020

Nonketotic Hyperglycinemia in Tunisia. Report upon a Series of 69 Patients.

Neuropediatrics, 2020, Volume: 51, Issue:5

Topics: Age of Onset; Child, Preschool; Consanguinity; Female; Glycine; Humans; Hyperglycinemia, Nonketotic;

2020

GLYT1 encephalopathy: Further delineation of disease phenotype and discussion of pathophysiological mechanisms.

American journal of medical genetics. Part A, 2021, Volume: 185, Issue:2

Topics: Abortion, Spontaneous; Arthrogryposis; Female; Genetic Predisposition to Disease; Glycine; Glycine P

2021

Genomic analyses of glycine decarboxylase neurogenic mutations yield a large-scale prediction model for prenatal disease.

PLoS genetics, 2021, Volume: 17, Issue:2

Topics: Animals; Disease Models, Animal; Female; Genomics; Genotype; Glycine; Glycine Dehydrogenase (Decarbo

2021

Elevated preoptic brain activity in zebrafish glial glycine transporter mutants is linked to lethargy-like behaviors and delayed emergence from anesthesia.

Scientific reports, 2021, 02-04, Volume: 11, Issue:1

Topics: Aminobenzoates; Anesthesia, General; Anesthetics; Animals; Animals, Genetically Modified; Craniotomy

2021

Genotypic and phenotypic features in Turkish patients with classic nonketotic hyperglycinemia.

Metabolic brain disease, 2021, Volume: 36, Issue:6

Topics: Agenesis of Corpus Callosum; Amino Acid Oxidoreductases; Female; Genotype; Glycine; Humans; Hypergly

2021

Biallelic start loss variant, c.1A > G in GCSH is associated with variant nonketotic hyperglycinemia.

Clinical genetics, 2021, Volume: 100, Issue:2

Topics: Child, Preschool; Female; Glycine; Glycine Decarboxylase Complex H-Protein; Humans; Hyperglycinemia,

2021

X-Linked Cobalamin Disorder (HCFC1) Mimicking Nonketotic Hyperglycinemia With Increased Both Cerebrospinal Fluid Glycine and Methylmalonic Acid.

Pediatric neurology, 2017, Volume: 71

Topics: Biomarkers; Brain; Diagnosis, Differential; Genetic Diseases, X-Linked; Glycine; Humans; Hyperglycin

2017

d-Glyceric aciduria does not cause nonketotic hyperglycinemia: A historic co-occurrence.

Molecular genetics and metabolism, 2017, Volume: 121, Issue:2

Topics: Amino Acid Oxidoreductases; Aminomethyltransferase; Carrier Proteins; Diagnosis, Differential; Epile

2017

A novel compound heterozygous variant identified in GLDC gene in a Chinese family with non-ketotic hyperglycinemia.

BMC medical genetics, 2018, 01-05, Volume: 19, Issue:1

Topics: Amino Acid Sequence; Asian People; China; Exons; Female; Genetic Variation; Genotype; Glycine; Glyci

2018

Why does hyperglycinemia exhibit so grave brain anomalies and so severe neurological symptoms?

Journal of theoretical biology, 2018, 10-14, Volume: 455

Topics: Brain; Cell Proliferation; DNA; Glycine; Humans; Hyperglycinemia, Nonketotic; Models, Neurological;

2018

Glycine decarboxylase deficiency-induced motor dysfunction in zebrafish is rescued by counterbalancing glycine synaptic level.

JCI insight, 2018, 11-02, Volume: 3, Issue:21

Topics: Animals; Brain; CRISPR-Associated Protein 9; Dextromethorphan; Excitatory Amino Acid Antagonists; Fa

2018

The effect of hyperglycinemic treatment in captive-bred Vervet monkeys (Chlorocebus aethiops).

Metabolic brain disease, 2019, Volume: 34, Issue:5

Topics: Animals; Chlorocebus aethiops; Dextromethorphan; Glycine; Hyperglycinemia, Nonketotic; Sodium Benzoa

2019

Diagnosis of glycine encephalopathy in a pediatric patient by detection of a GLDC mutation during initial next generation DNA sequencing.

Metabolic brain disease, 2014, Volume: 29, Issue:1

Topics: Base Sequence; DNA Mutational Analysis; Female; Genes, Recessive; Glycine; Glycine Dehydrogenase (De

2014

Two novel missense mutations in nonketotic hyperglycinemia.

Journal of child neurology, 2015, Volume: 30, Issue:6

Topics: Aminomethyltransferase; Epilepsies, Myoclonic; Female; Genetic Predisposition to Disease; Glycine; G

2015

Glycine decarboxylase deficiency causes neural tube defects and features of non-ketotic hyperglycinemia in mice.

Nature communications, 2015, Mar-04, Volume: 6

Topics: Animals; Base Sequence; DNA Primers; Folic Acid; Formates; Galactosides; Gas Chromatography-Mass Spe

2015

Novel compound heterozygous LIAS mutations cause glycine encephalopathy.

Journal of human genetics, 2015, Volume: 60, Issue:10

Topics: Adult; Exome; Female; Glycine; Heterozygote; Humans; Hyperglycinemia, Nonketotic; Mutation

2015

Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia.

Annals of neurology, 2015, Volume: 78, Issue:4

Topics: Animals; Chlorocebus aethiops; COS Cells; Female; Glycine; Humans; Hyperglycinemia, Nonketotic; Infa

2015

The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.

Genetics in medicine : official journal of the American College of Medical Genetics, 2017, Volume: 19, Issue:1

Topics: Alleles; Aminomethyltransferase; Dihydrolipoamide Dehydrogenase; Exons; Female; Genetic Testing; Gen

2017

Biochemical diagnosis of nonketotic hyperglycinemia in Cuba.

Neurologia, 2018, Volume: 33, Issue:8

Topics: Female; Glycine; Humans; Hyperglycinemia, Nonketotic; Infant; Infant, Newborn; Male

2018

Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans.

Human genetics, 2016, Volume: 135, Issue:11

Topics: Amino Acid Oxidoreductases; Animals; Base Sequence; Carrier Proteins; Exome; Female; Glycine; Glycin

2016

Loss of Glycine Transporter 1 Causes a Subtype of Glycine Encephalopathy with Arthrogryposis and Mildly Elevated Cerebrospinal Fluid Glycine.

American journal of human genetics, 2016, Nov-03, Volume: 99, Issue:5

Topics: Animals; Arthrogryposis; Child, Preschool; Female; Gene Deletion; Gene Expression Regulation; Glycin

2016

Glycine Administration Alters MAPK Signaling Pathways and Causes Neuronal Damage in Rat Brain: Putative Mechanisms Involved in the Neurological Dysfunction in Nonketotic Hyperglycinemia.

Molecular neurobiology, 2018, Volume: 55, Issue:1

Topics: Animals; Brain; Corpus Striatum; Dizocilpine Maleate; Glial Fibrillary Acidic Protein; Glycine; Hype

2018

Nonketotic hyperglycinemia: Functional assessment of missense variants in GLDC to understand phenotypes of the disease.

Human mutation, 2017, Volume: 38, Issue:6

Topics: Exons; Gene Expression Regulation, Enzymologic; Glycine; Glycine Dehydrogenase (Decarboxylating); Hu

2017

Glycine provokes lipid oxidative damage and reduces the antioxidant defenses in brain cortex of young rats.

Cellular and molecular neurobiology, 2009, Volume: 29, Issue:2

Topics: Animals; Antioxidants; Cerebral Cortex; Cytoprotection; Dose-Response Relationship, Drug; Glutathion

2009

Intracerebral blood and MRS in neonatal nonketotic hyperglycinemia.

Pediatric neurology, 2010, Volume: 42, Issue:3

Topics: Brain; Cerebral Hemorrhage; Female; Glycine; Hiccup; Humans; Hyperglycinemia, Nonketotic; Infant, Ne

2010

A floppy neonate with respiratory failure and burst suppression EEG (case presentation).

Acta paediatrica (Oslo, Norway : 1992), 2010, Volume: 99, Issue:3

Topics: Diagnosis, Differential; Electroencephalography; Female; Glycine; Humans; Hyperglycinemia, Nonketoti

2010

Nonketotic hyperglycinemia: proposal of a diagnostic and treatment strategy.

Pediatric neurology, 2010, Volume: 43, Issue:3

Topics: Glycine; Humans; Hyperglycinemia, Nonketotic; Infant, Newborn; Male

2010

Nitrous oxide for glycine encephalopathy.

Paediatric anaesthesia, 2010, Volume: 20, Issue:10

Topics: Anesthesia, Inhalation; Anesthetics, Inhalation; Electroencephalography; Gastrostomy; Glycine; Human

2010

Pitfalls in measuring cerebrospinal fluid glycine levels in infants with encephalopathy.

Journal of child neurology, 2011, Volume: 26, Issue:6

Topics: Child, Preschool; Female; Glycine; Humans; Hyperglycinemia, Nonketotic; Hypoxia, Brain; Infant; Magn

2011

Late-onset nonketotic hyperglycinemia caused by a novel homozygous missense mutation in the GLDC gene.

Molecular genetics and metabolism, 2011, Volume: 103, Issue:2

Topics: Base Sequence; Child; Dextromethorphan; Excitatory Amino Acid Antagonists; Glycine; Glycine Dehydrog

2011

Glycine intrastriatal administration induces lipid and protein oxidative damage and alters the enzymatic antioxidant defenses in rat brain.

Life sciences, 2011, Aug-15, Volume: 89, Issue:7-8

Topics: Animals; Brain; Corpus Striatum; Disease Models, Animal; Dizocilpine Maleate; Glycine; Glycine Agent

2011

Paracetamol prevents hyperglycinemia in vervet monkeys treated with valproate.

Metabolic brain disease, 2012, Volume: 27, Issue:3

Topics: Acetaminophen; Analgesics, Non-Narcotic; Animals; Anticonvulsants; Chlorocebus aethiops; Disease Mod

2012

Nonketotic hyperglycinemia: a cause of encephalopathy in children.

Journal of child neurology, 2013, Volume: 28, Issue:2

Topics: Child; Female; Glycine; Humans; Hyperglycinemia, Nonketotic; Intellectual Disability; Lennox Gastaut

2013

Magnetic resonance spectroscopy study of glycine pathways in nonketotic hyperglycinemia.

Pediatric research, 2002, Volume: 52, Issue:2

Topics: Aspartic Acid; Brain; Child, Preschool; Dextromethorphan; Excitatory Amino Acid Antagonists; Female;

2002

Pitfalls in the diagnosis of glycine encephalopathy (non-ketotic hyperglycinemia).

Developmental medicine and child neurology, 2002, Volume: 44, Issue:10

Topics: Anticonvulsants; Brain Diseases, Metabolic, Inborn; Child, Preschool; Chromosome Aberrations; Consan

2002

Prenatal diagnosis of hypoplasia of the corpus callosum in association with non-ketotic hyperglycinemia.

Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology, 2002, Volume: 20, Issue:6

Topics: Abnormalities, Multiple; Agenesis of Corpus Callosum; Amino Acid Metabolism, Inborn Errors; Electroe

2002

Molecular genetic and potential biochemical characteristics of patients with T-protein deficiency as a cause of glycine encephalopathy (NKH).

Molecular genetics and metabolism, 2003, Volume: 79, Issue:4

Topics: Aminomethyltransferase; Base Sequence; Glycine; Herpesvirus 4, Human; Humans; Hydroxymethyl and Form

2003

Poor outcome for neonatal-type nonketotic hyperglycinemia treated with high-dose sodium benzoate and dextromethorphan.

Journal of child neurology, 2004, Volume: 19, Issue:1

Topics: Brain; Child, Preschool; Chromosome Aberrations; Dextromethorphan; Diazepam; Disease Progression; Di

2004

Persistent NKH with transient or absent symptoms and a homozygous GLDC mutation.

Annals of neurology, 2004, Volume: 56, Issue:1

Topics: Adult; Amino Acid Oxidoreductases; Child, Preschool; DNA Mutational Analysis; Excitatory Amino Acid

2004

Natural history of nonketotic hyperglycinemia in 65 patients.

Neurology, 2004, Nov-23, Volume: 63, Issue:10

Topics: Adolescent; Age of Onset; Agenesis of Corpus Callosum; Anticonvulsants; Apnea; Child; Child, Prescho

2004

Four cases of neonatal non-ketotic hyperglycinaemia.

Annals of tropical paediatrics, 2004, Volume: 24, Issue:4

Topics: Biomarkers; Fatal Outcome; Glycine; Humans; Hyperglycinemia, Nonketotic; Infant, Newborn; Male

2004

Mild glycine encephalopathy (NKH) in a large kindred due to a silent exonic GLDC splice mutation.

Neurology, 2005, Apr-26, Volume: 64, Issue:8

Topics: Adolescent; Alternative Splicing; Arabs; Brain; Brain Chemistry; Child; Child, Preschool; Disease Pr

2005

A single nucleotide substitution that abolishes the initiator methionine codon of the GLDC gene is prevalent among patients with glycine encephalopathy in Jerusalem.

Journal of human genetics, 2005, Volume: 50, Issue:5

Topics: Amino Acid Oxidoreductases; Amino Acid Substitution; Arabs; Codon, Initiator; Female; Glycine; Glyci

2005

Crystal structure of human T-protein of glycine cleavage system at 2.0 A resolution and its implication for understanding non-ketotic hyperglycinemia.

Journal of molecular biology, 2005, Sep-02, Volume: 351, Issue:5

Topics: Amino Acid Sequence; Aminomethyltransferase; Animals; Arginine; Asparagine; Binding Sites; Catalytic

2005

Non-ketotic hyperglycinemia as the cause of infant seizures--the case study.

Annales Universitatis Mariae Curie-Sklodowska. Sectio D: Medicina, 2004, Volume: 59, Issue:1

Topics: Brain; Diagnosis, Differential; Electroencephalography; Female; Follow-Up Studies; Glycine; Humans;

2004

Benzoate treatment and the glycine index in nonketotic hyperglycinaemia.

Journal of inherited metabolic disease, 2005, Volume: 28, Issue:5

Topics: Adolescent; Age Factors; Age of Onset; Amino Acid Oxidoreductases; Anti-Infective Agents; Benzoates;

2005

Glycine encephalopathy (nonketotic hyperglycinemia): comments and speculations.

American journal of medical genetics. Part A, 2006, Jan-15, Volume: 140, Issue:2

Topics: Aminomethyltransferase; Glycine; Glycine Dehydrogenase (Decarboxylating); Humans; Hyperglycinemia, N

2006

Genetic heterogeneity of the GLDC gene in 28 unrelated patients with glycine encephalopathy.

Journal of inherited metabolic disease, 2006, Volume: 29, Issue:1

Topics: Alleles; Chromatography, High Pressure Liquid; DNA Mutational Analysis; DNA Primers; Female; Gene De

2006

Glycine encephalopathy and delayed emergence from anesthesia.

Anesthesia and analgesia, 2006, Volume: 103, Issue:6

Topics: Anesthesia; Child, Preschool; Female; Glycine; Humans; Hyperglycinemia, Nonketotic

2006

Non-ketotic hyperglycinemia is usually not detectable by tandem mass spectrometry newborn screening.

Molecular genetics and metabolism, 2007, Volume: 90, Issue:4

Topics: Glycine; Humans; Hyperglycinemia, Nonketotic; Infant; Infant, Newborn; Neonatal Screening; Tandem Ma

2007

Late-onset nonketotic hyperglycinemia with leukodystrophy and an unusual clinical course.

Pediatric neurology, 2007, Volume: 37, Issue:4

Topics: Age of Onset; Brain Diseases, Metabolic; Cerebral Palsy; Child, Preschool; Female; Gait; Glycine; Hu

2007

Neonatal nonketotic hyperglycinemia.

Indian journal of pediatrics, 2007, Volume: 74, Issue:12

Topics: Amino Acid Metabolism, Inborn Errors; Disease Progression; Fatal Outcome; Glycine; Humans; Hyperglyc

2007

Practical difficulties in the diagnosis of transient non-ketotic hyperglycinaemia.

Developmental medicine and child neurology, 2008, Volume: 50, Issue:2

Topics: Amino Acids; Diagnosis, Differential; Female; Glycine; Humans; Hyperglycinemia, Nonketotic; Infant,

2008

Prenatal diagnosis of non-ketotic hyperglycinaemia: enzymatic diagnosis in 28 families and DNA diagnosis detecting prevalent Finnish and Israeli-Arab mutations.

Prenatal diagnosis, 1999, Volume: 19, Issue:8

Topics: Amino Acid Oxidoreductases; Arabs; Carrier Proteins; Case-Control Studies; Chorionic Villi Sampling;

1999

Atypical nonketotic hyperglycinemia with normal cerebrospinal fluid to plasma glycine ratio.

Journal of child neurology, 1999, Volume: 14, Issue:7

Topics: Adolescent; Child; Epilepsy, Complex Partial; Female; Glycine; Humans; Hyperglycinemia, Nonketotic;

1999

Increased cerebrospinal fluid glycine: a biochemical marker for a leukoencephalopathy with vanishing white matter.

Journal of child neurology, 1999, Volume: 14, Issue:11

Topics: Adolescent; Adult; Biomarkers; Brain; Brain Diseases; Child; Child, Preschool; Excitatory Amino Acid

1999

Transient nonketotic hyperglycinemia in an asphyxiated patient with pyridoxine-dependent seizures.

Pediatric neurology, 2000, Volume: 22, Issue:3

Topics: Asphyxia Neonatorum; Brain; Electroencephalography; Glycine; Humans; Hyperglycinemia, Nonketotic; In

2000

Biochemical and molecular investigations of patients with nonketotic hyperglycinemia.

Molecular genetics and metabolism, 2000, Volume: 70, Issue:2

Topics: Amino Acid Sequence; DNA Mutational Analysis; DNA Primers; Exons; Female; Glycine; Homocysteine S-Me

2000

Recurrent mutations in P- and T-proteins of the glycine cleavage complex and a novel T-protein mutation (N145I): a strategy for the molecular investigation of patients with nonketotic hyperglycinemia (NKH).

Molecular genetics and metabolism, 2001, Volume: 72, Issue:4

Topics: Amino Acid Oxidoreductases; Aminomethyltransferase; DNA Primers; Exons; Gene Frequency; Glycine; Gly

2001

In vivo 1H magnetic resonance spectroscopic measurement of brain glycine levels in nonketotic hyperglycinemia.

Journal of neuroimaging : official journal of the American Society of Neuroimaging, 2001, Volume: 11, Issue:2

Topics: Aspartic Acid; Brain; Brain Diseases, Metabolic; Choline; Chromosome Aberrations; Chromosome Disorde

2001

Chromosomal localization, structure, single-nucleotide polymorphisms, and expression of the human H-protein gene of the glycine cleavage system (GCSH), a candidate gene for nonketotic hyperglycinemia.

Journal of human genetics, 2001, Volume: 46, Issue:7

Topics: Alleles; Amino Acid Oxidoreductases; Base Sequence; Chromosome Mapping; Chromosomes, Human, Pair 16;

2001

Structure and expression of the glycine cleavage system in rat central nervous system.

Brain research. Molecular brain research, 2001, Oct-19, Volume: 94, Issue:1-2

Topics: Age Factors; Amino Acid Oxidoreductases; Amino Acid Sequence; Animals; Astrocytes; Base Sequence; Br

2001

Proton magnetic resonance spectroscopy of the brain of a neonate with nonketotic hyperglycinemia: in vivo-in vitro (ex vivo) correlation.

European radiology, 2002, Volume: 12, Issue:4

Topics: Brain; Brain Chemistry; Glycine; Humans; Hyperglycinemia, Nonketotic; Infant, Newborn; Magnetic Reso

2002