glycine has been researched along with Intellectual Disability in 105 studies
Intellectual Disability: Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)
| Excerpt | Relevance | Reference |
|---|---|---|
| "Patients are affected with congenital microcephaly, psychomotor retardation, and intractable seizures." | 5.30 | Beneficial effects of L-serine and glycine in the management of seizures in 3-phosphoglycerate dehydrogenase deficiency. ( Berger, R; Blau, N; de Koning, TJ; Dorland, L; Duran, M; Gooskens, R; Jaeken, J; Poll-The, BT; Van Schaftingen, E, 1998) |
| "Isovaleric acidaemia was diagnosed in a 9-year-old girl with an unusual clinical presentation." | 5.26 | Isovaleric acidaemia presenting with dwarfism, cataract and congenital abnormalities. ( Batenburg-Plenter, AM; Bruinvis, L; Duran, M; Ketting, D; van Pelt, BC; Wadman, SK, 1982) |
| "l-arginine:glycine amidinotransferase (AGAT) and its metabolites homoarginine (hArg) and creatine have been linked to stroke pathology in both human and mouse studies." | 3.96 | Homoarginine- and Creatine-Dependent Gene Regulation in Murine Brains with l-Arginine:Glycine Amidinotransferase Deficiency. ( Arunachalam, P; Choe, CU; Gelderblom, M; Gerloff, C; Jensen, M; Magnus, T; Müller, C; Schwedhelm, E; Zeller, T, 2020) |
| "We determined creatine/creatinine ratio in urine samples from 1600 unrelated male patients with mental retardation and/or autism." | 3.74 | Creatine transporter deficiency: prevalence among patients with mental retardation and pitfalls in metabolite screening. ( Arias, A; Artuch, R; Briones, P; Campistol, J; Corbella, M; Fons, C; García-Villoria, J; Ormazabal, A; Pàmpols, T; Pineda, M; Poo, P; Ribes, A; Salomons, GS; Sempere, A; Vilaseca, MA, 2007) |
| " Biochemically, beta-ketothiolase deficiency is characterized by intermittent ketoacidosis and urinary excretion of 2-methyl-acetoacetate (MAA), 2-methyl-3-hydroxybutyrate (MHB) and tiglylglycine (TG), whereas in MHBD deficiency only MHB and tiglylglycine accumulate." | 3.73 | Inhibition of energy metabolism by 2-methylacetoacetate and 2-methyl-3-hydroxybutyrate in cerebral cortex of developing rats. ( da C Ferreira, G; Dalcin, KB; de Assis, DR; Filho, CS; Latini, A; Leipnitz, G; Maria, RC; Perry, ML; Ribeiro, CA; Rosa, RB; Schuck, PF; Wajner, M; Wannmacher, CM; Wyse, AT, 2005) |
| "Certain gouty subjects with excessive de novo purine synthesis are deficient in hypoxanthineguanine phosphoribosyltransferase (HG-PRTase [EC 2." | 3.65 | Mechanism of excessive purine biosynthesis in hypoxanthine-guanine phosphoribosyltransferase deficiency. ( Sorensen, LB, 1970) |
| " AGAT patients might benefit from oral GAA due to upgraded bioavailability and convenient utilization of the compound, while possible drawbacks (e." | 2.61 | Benefits and drawbacks of guanidinoacetic acid as a possible treatment to replenish cerebral creatine in AGAT deficiency. ( Ostojic, SM, 2019) |
| "Treatment with creatine monohydrate (100-800 mg/kg/day) resulted in almost complete restoration of brain creatine levels and significant improvement of myopathy." | 1.42 | Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwide. ( Apatean, D; Battini, R; DeBrosse, S; Dessoffy, K; Dowling, MD; Edvardson, S; Eichler, F; Johnston, K; Koeller, DM; Nouioua, S; Stockler-Ipsiroglu, S; Tazir, M; Verma, A; Wierenga, AM; Wierenga, KJ; Wong, LJ; Zhang, V, 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) |
| "This 13-year-old girl presented with mental retardation, as main symptom, associated with a typical pattern of biochemical and neurochemical (brain magnetic resonance spectroscopy) alterations." | 1.33 | A mutation on exon 6 of guanidinoacetate methyltransferase (GAMT) gene supports a different function for isoform a and b of GAMT enzyme. ( Antonozzi, I; Artiola, C; Bianchi, MC; Carducci, C; Di Sabato, ML; Leuzzi, V; Matricardi, M, 2006) |
| "Attacks of familial hemiplegic migraine (FHM) are usually associated with transient, completely reversible symptoms." | 1.33 | Severe episodic neurological deficits and permanent mental retardation in a child with a novel FHM2 ATP1A2 mutation. ( De Vries, BB; Ferrari, MD; Frants, RR; Haan, J; Koenderink, JB; Kors, EE; Stam, AH; Stroink, H; Terwindt, GM; van den Boogerd, EH; van den Heuvel, JJ; van den Maagdenberg, AM; Vanmolkot, KR, 2006) |
| "The C-terminal end of the fragile X mental retardation protein contains a stretch of amino acid residues that are enriched in arginine and glycine." | 1.31 | Methylation of the arginine-glycine-rich region in the fragile X mental retardation protein FMRP differentially affects RNA binding. ( Denman, RB, 2002) |
| "In two female siblings with mental retardation who had brain creatine deficiency that was reversible by means of oral creatine supplementation and had low urinary guanidinoacetate concentrations, AGAT deficiency was identified as a new genetic defect in creatine metabolism." | 1.31 | Arginine:glycine amidinotransferase deficiency: the third inborn error of creatine metabolism in humans. ( Alessandrì, MG; Bianchi, MC; Cioni, G; Fornai, F; Item, CB; Mühl, A; Stöckler-Ipsiroglu, S; Stromberger, C; Tosetti, M, 2001) |
| "Patients are affected with congenital microcephaly, psychomotor retardation, and intractable seizures." | 1.30 | Beneficial effects of L-serine and glycine in the management of seizures in 3-phosphoglycerate dehydrogenase deficiency. ( Berger, R; Blau, N; de Koning, TJ; Dorland, L; Duran, M; Gooskens, R; Jaeken, J; Poll-The, BT; Van Schaftingen, E, 1998) |
| "Sarcosine was undetected in other family members." | 1.27 | Sarcosinaemia in a retarded, amaurotic child. ( Krille, M; Sewell, AC; Wilhelm, I, 1986) |
| "Isovaleric acidaemia was diagnosed in a 9-year-old girl with an unusual clinical presentation." | 1.26 | Isovaleric acidaemia presenting with dwarfism, cataract and congenital abnormalities. ( Batenburg-Plenter, AM; Bruinvis, L; Duran, M; Ketting, D; van Pelt, BC; Wadman, SK, 1982) |
| "Strychnine treatment was initiated because it is a specific antagonist of glycine at postsynaptic membranes." | 1.26 | Strychnine therapy in nonketotic hyperglycinemia. ( Arneson, D; Ch'ien, LT; Chance, P; Wilroy, RS, 1979) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 76 (72.38) | 18.7374 |
| 1990's | 5 (4.76) | 18.2507 |
| 2000's | 9 (8.57) | 29.6817 |
| 2010's | 12 (11.43) | 24.3611 |
| 2020's | 3 (2.86) | 2.80 |
| Authors | Studies |
|---|---|
| Balestrino, M | 1 |
| Adriano, E | 1 |
| Jensen, M | 1 |
| Müller, C | 1 |
| Schwedhelm, E | 2 |
| Arunachalam, P | 1 |
| Gelderblom, M | 1 |
| Magnus, T | 1 |
| Gerloff, C | 2 |
| Zeller, T | 1 |
| Choe, CU | 2 |
| Neu, A | 1 |
| Hornig, S | 1 |
| Sasani, A | 1 |
| Isbrandt, D | 1 |
| Tsikas, D | 1 |
| Ostojic, SM | 1 |
| Bruun, TUJ | 1 |
| Sidky, S | 1 |
| Bandeira, AO | 1 |
| Debray, FG | 1 |
| Ficicioglu, C | 1 |
| Goldstein, J | 1 |
| Joost, K | 1 |
| Koeberl, DD | 1 |
| Luísa, D | 1 |
| Nassogne, MC | 1 |
| O'Sullivan, S | 1 |
| Õunap, K | 1 |
| Schulze, A | 2 |
| van Maldergem, L | 1 |
| Salomons, GS | 5 |
| Mercimek-Andrews, S | 1 |
| Garza-Lopez, E | 1 |
| Lopez, JA | 1 |
| Hagen, J | 1 |
| Sheffer, R | 1 |
| Meiner, V | 1 |
| Lee, A | 1 |
| Amin, JB | 1 |
| Leng, X | 1 |
| Gochman, A | 1 |
| Zhou, HX | 1 |
| Wollmuth, LP | 1 |
| Nouioua, S | 2 |
| Cheillan, D | 2 |
| Zaouidi, S | 1 |
| Amedjout, N | 1 |
| Kessaci, F | 1 |
| Boulahdour, N | 1 |
| Hamadouche, T | 1 |
| Tazir, M | 2 |
| Stockler-Ipsiroglu, S | 4 |
| van Karnebeek, C | 1 |
| Longo, N | 1 |
| Korenke, GC | 1 |
| Mercimek-Mahmutoglu, S | 1 |
| Marquart, I | 1 |
| Barshop, B | 1 |
| Grolik, C | 1 |
| Schlune, A | 1 |
| Angle, B | 1 |
| Araújo, HC | 1 |
| Coskun, T | 1 |
| Diogo, L | 2 |
| Geraghty, M | 1 |
| Haliloglu, G | 1 |
| Konstantopoulou, V | 1 |
| Leuzzi, V | 3 |
| Levtova, A | 1 |
| Mackenzie, J | 1 |
| Maranda, B | 1 |
| Mhanni, AA | 1 |
| Mitchell, G | 1 |
| Morris, A | 1 |
| Newlove, T | 1 |
| Renaud, D | 1 |
| Scaglia, F | 1 |
| Valayannopoulos, V | 2 |
| van Spronsen, FJ | 1 |
| Verbruggen, KT | 1 |
| Yuskiv, N | 1 |
| Nyhan, W | 1 |
| Braissant, O | 2 |
| Pitt, JJ | 1 |
| Tzanakos, N | 1 |
| Nguyen, T | 1 |
| Apatean, D | 1 |
| Battini, R | 1 |
| DeBrosse, S | 1 |
| Dessoffy, K | 1 |
| Edvardson, S | 1 |
| Eichler, F | 1 |
| Johnston, K | 1 |
| Koeller, DM | 1 |
| Verma, A | 1 |
| Dowling, MD | 1 |
| Wierenga, KJ | 1 |
| Wierenga, AM | 1 |
| Zhang, V | 1 |
| Wong, LJ | 1 |
| Chen, W | 1 |
| Shieh, C | 1 |
| Swanger, SA | 1 |
| Tankovic, A | 1 |
| Au, M | 1 |
| McGuire, M | 1 |
| Tagliati, M | 1 |
| Graham, JM | 1 |
| Madan-Khetarpal, S | 1 |
| Traynelis, SF | 1 |
| Yuan, H | 1 |
| Pierson, TM | 1 |
| Boddaert, N | 1 |
| Chabli, A | 1 |
| Barbier, V | 1 |
| Desguerre, I | 1 |
| Philippe, A | 1 |
| Afenjar, A | 1 |
| Mazzuca, M | 1 |
| Munnich, A | 1 |
| de Keyzer, Y | 1 |
| Jakobs, C | 3 |
| de Lonlay, P | 1 |
| Veríssimo, C | 1 |
| Garcia, P | 1 |
| Simões, M | 1 |
| Robalo, C | 1 |
| Henriques, R | 1 |
| Grazina, M | 1 |
| Denman, RB | 1 |
| MELLMAN, WJ | 1 |
| BARNESS, LA | 3 |
| TEDESCO, TA | 1 |
| BESSELMAN, D | 1 |
| EFRON, ML | 1 |
| YOUNG, D | 1 |
| MOSER, HW | 1 |
| MACCREADY, RA | 1 |
| DINGMAN, HF | 1 |
| WRIGHT, SW | 1 |
| STAMBAUGH, R | 1 |
| DAVIDSON, DT | 1 |
| NYHAN, WL | 7 |
| CHILDS, B | 1 |
| Caldeira Araújo, H | 1 |
| Smit, W | 1 |
| Verhoeven, NM | 2 |
| Silva, S | 1 |
| Vasconcelos, R | 1 |
| Tomás, H | 1 |
| Tavares de Almeida, I | 1 |
| Duran, M | 3 |
| Rosa, RB | 1 |
| Schuck, PF | 1 |
| de Assis, DR | 1 |
| Latini, A | 1 |
| Dalcin, KB | 1 |
| Ribeiro, CA | 1 |
| da C Ferreira, G | 1 |
| Maria, RC | 1 |
| Leipnitz, G | 1 |
| Perry, ML | 1 |
| Filho, CS | 1 |
| Wyse, AT | 1 |
| Wannmacher, CM | 1 |
| Wajner, M | 1 |
| Carducci, C | 2 |
| Matricardi, M | 1 |
| Bianchi, MC | 2 |
| Di Sabato, ML | 1 |
| Artiola, C | 1 |
| Antonozzi, I | 2 |
| Vanmolkot, KR | 1 |
| Stroink, H | 1 |
| Koenderink, JB | 1 |
| Kors, EE | 1 |
| van den Heuvel, JJ | 1 |
| van den Boogerd, EH | 1 |
| Stam, AH | 1 |
| Haan, J | 1 |
| De Vries, BB | 1 |
| Terwindt, GM | 1 |
| Frants, RR | 1 |
| Ferrari, MD | 1 |
| van den Maagdenberg, AM | 1 |
| Arias, A | 1 |
| Corbella, M | 1 |
| Fons, C | 1 |
| Sempere, A | 1 |
| García-Villoria, J | 1 |
| Ormazabal, A | 1 |
| Poo, P | 1 |
| Pineda, M | 1 |
| Vilaseca, MA | 1 |
| Campistol, J | 1 |
| Briones, P | 1 |
| Pàmpols, T | 1 |
| Ribes, A | 1 |
| Artuch, R | 1 |
| Henry, H | 1 |
| Waisman, HA | 2 |
| Gerritsen, T | 2 |
| Kang, ES | 1 |
| Seyer, J | 1 |
| Todd, TA | 1 |
| Herrera, C | 1 |
| Walker, V | 1 |
| Smythe, PJ | 1 |
| Cook, NJ | 1 |
| Ball, NA | 1 |
| Veall, RM | 1 |
| Whiteman, P | 1 |
| de Céspedes, C | 1 |
| Santisteban, I | 1 |
| Ortiz, D | 1 |
| Rojas, E | 1 |
| Rodríguez, J | 1 |
| Nanne, C | 1 |
| Orlich, J | 1 |
| Flannery, DB | 1 |
| Pellock, J | 1 |
| Bousounis, D | 1 |
| Hunt, P | 1 |
| Nance, C | 1 |
| Wolf, B | 1 |
| Bruinvis, L | 1 |
| Ketting, D | 1 |
| Wadman, SK | 1 |
| van Pelt, BC | 1 |
| Batenburg-Plenter, AM | 1 |
| MacDermot, KD | 1 |
| Nelson, W | 1 |
| Reichert, CM | 1 |
| Schulman, JD | 1 |
| Christodoulou, J | 1 |
| Kure, S | 1 |
| Hayasaka, K | 3 |
| Clarke, JT | 1 |
| de Koning, TJ | 1 |
| Dorland, L | 1 |
| Gooskens, R | 1 |
| Van Schaftingen, E | 1 |
| Jaeken, J | 1 |
| Blau, N | 1 |
| Berger, R | 2 |
| Poll-The, BT | 1 |
| Ai, LS | 1 |
| Lin, CH | 1 |
| Hsieh, M | 1 |
| Li, C | 1 |
| van der Knaap, MS | 1 |
| Maaswinkel-Mooij, P | 1 |
| Pouwels, PJ | 1 |
| Onkenhout, W | 1 |
| Peeters, EA | 1 |
| Item, CB | 1 |
| Stromberger, C | 1 |
| Mühl, A | 1 |
| Alessandrì, MG | 1 |
| Tosetti, M | 1 |
| Fornai, F | 1 |
| Cioni, G | 1 |
| Frazier, DM | 1 |
| Summer, GK | 1 |
| Chamberlin, HR | 1 |
| Arneson, D | 1 |
| Ch'ien, LT | 1 |
| Chance, P | 1 |
| Wilroy, RS | 1 |
| Kato, T | 1 |
| Shuman, RM | 1 |
| Leech, RW | 1 |
| Scott, CR | 2 |
| Brun, A | 1 |
| Börjeson, M | 1 |
| Hultberg, B | 1 |
| Sjöblad, S | 1 |
| Akesson, H | 1 |
| Litwin, E | 1 |
| Law, EA | 1 |
| Sardharwalla, IB | 1 |
| von Wendt, L | 1 |
| Similä, S | 2 |
| Hirvasniemi, A | 1 |
| Suvanto, E | 1 |
| de Groot, CJ | 3 |
| Boeli Everts, V | 1 |
| Touwen, BC | 1 |
| Hommes, FA | 2 |
| Brady, RO | 1 |
| Krieger, I | 2 |
| Winbaum, ES | 1 |
| Eisenbrey, AB | 1 |
| Statter, M | 1 |
| Ben-Zvi, A | 1 |
| Shina, A | 1 |
| Schein, R | 1 |
| Russell, A | 1 |
| Kolvraa, S | 1 |
| Rasmussen, K | 2 |
| Brandt, NJ | 2 |
| Stern, J | 2 |
| Antoshechkin, AG | 1 |
| Seriogina, IA | 1 |
| Maximova, LA | 1 |
| Morano, S | 1 |
| Moretti, F | 1 |
| Fabbrizi, F | 1 |
| Sewell, AC | 1 |
| Krille, M | 1 |
| Wilhelm, I | 1 |
| Singer, HS | 1 |
| Valle, D | 1 |
| Tada, K | 2 |
| Haan, EA | 1 |
| Kirby, DM | 1 |
| Danks, DM | 2 |
| Levy, HL | 2 |
| Erickson, AM | 1 |
| Lott, IT | 1 |
| Kurtz, DJ | 1 |
| Holmgren, G | 1 |
| Moore, PT | 1 |
| Martin, MC | 1 |
| Coffey, VP | 1 |
| Chmaleva, NP | 1 |
| Kalmykova, LG | 1 |
| Bejar, RL | 1 |
| Smith, GF | 1 |
| Park, S | 1 |
| Spellacy, WN | 1 |
| Wolfson, SL | 1 |
| Daniel, WL | 1 |
| Tosi, T | 1 |
| Brandt, S | 1 |
| Schnoheyder, F | 1 |
| Mollica, F | 1 |
| Pavone, L | 1 |
| Antener, I | 1 |
| Ionasescu, V | 1 |
| Stegink, L | 1 |
| Mueller, S | 1 |
| Weinstein, M | 1 |
| Reploh, H | 1 |
| Gröbe, H | 1 |
| Diekmann, L | 1 |
| Palm, D | 1 |
| von Bassewitz, DB | 1 |
| Jenett, W | 1 |
| Ben-Ami, E | 1 |
| Burstein, I | 1 |
| Cohen, BE | 1 |
| Szeinberg, A | 1 |
| Leiber, B | 1 |
| Olbrich, G | 1 |
| Bartsocas, CS | 2 |
| Erbe, RW | 1 |
| Koepp, P | 1 |
| Grüttner, R | 1 |
| Rybak, C | 1 |
| Balci, S | 1 |
| Say, B | 1 |
| Firat, T | 1 |
| Tippett, P | 1 |
| Hart, ZH | 1 |
| Sweetman, L | 2 |
| Lesch, M | 1 |
| Menne, F | 1 |
| Emery, FA | 1 |
| Goldie, L | 1 |
| Davison, AN | 2 |
| Seppäläinen, AM | 1 |
| Baumgartner, R | 1 |
| Ando, T | 2 |
| Schweikhardt, F | 1 |
| Hessing, J | 1 |
| Troelstra, JA | 1 |
| Sorensen, LB | 1 |
| van der Zee, SP | 1 |
| Lommen, EJ | 1 |
| Trijbels, JM | 1 |
| Schretlen, ED | 1 |
| Ghadimi, H | 1 |
| Bhalla, CK | 1 |
| Kirchenbaum, DM | 1 |
| Agrawal, HC | 1 |
| Bone, AH | 1 |
| Ferdinand, W | 1 |
| Gordon, RR | 1 |
| Owen, G | 1 |
| Clark, SH | 1 |
| Teng, CC | 1 |
| Swedberg, KR | 1 |
| Perry, TL | 1 |
| Bunting, R | 1 |
| Tischler, B | 1 |
| Hansen, S | 1 |
| Diamond, S | 1 |
| Weppler, VC | 1 |
| Rosenberg, LE | 2 |
| Lilljeqvist, AC | 1 |
| Hsia, YE | 1 |
| Durant, JL | 1 |
| Elsas, LJ | 1 |
| Hooft, C | 1 |
| Van Nevel, C | 1 |
| De Schaepdryver, AF | 1 |
| Other, A | 1 |
| Morrow, G | 2 |
| Auerbach, VH | 1 |
| DiGeorge, AM | 1 |
| Crawford, JD | 1 |
| Thier, SO | 1 |
| James, JA | 1 |
| Teberg, AJ | 1 |
| Nelson, LG | 1 |
| Hirsch, W | 1 |
| Mex, A | 1 |
| Vogel, F | 1 |
| Broyer, M | 1 |
| Watts, RW | 1 |
| Mann, TP | 1 |
| Kaveggia, E | 1 |
4 reviews available for glycine and Intellectual Disability
| Article | Year |
|---|---|
Benefits and drawbacks of guanidinoacetic acid as a possible treatment to replenish cerebral creatine in AGAT deficiency.
Topics: Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Clinical Trials as Topic; Creatine; Devel | 2019 |
AGAT, GAMT and SLC6A8 distribution in the central nervous system, in relation to creatine deficiency syndromes: a review.
Topics: Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Animals; Brain; Creatine; Developmental D | 2008 |
[Feeble mindedness caused by genetic disorders of amino acid metabolism].
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Citrulline; Glycine; Hartnup Disease; Histi | 1968 |
Too much of a good thing.
Topics: Amino Acids; Animals; Blood Pressure; Central Nervous System; Eye Diseases; Food Additives; Glutamat | 1971 |
1 trial available for glycine and Intellectual Disability
| Article | Year |
|---|---|
Effects of the uricogenic agent, 2-ethylamino-1,3,4-thiadiazole in hypoxanthine-guanine phosphoribosyl transferase deficiency.
Topics: Adolescent; Athetosis; Azoles; Carbon Isotopes; Cerebral Palsy; Child; Chorea; Clinical Trials as To | 1968 |
100 other studies available for glycine and Intellectual Disability
| Article | Year |
|---|---|
Presence of guanidinoacetate may compensate creatine absence and account for less statin-induced muscle damage in GAMT-deficient compared to AGAT-deficient mice.
Topics: Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Animals; Creatine; Developmental Disabili | 2020 |
Homoarginine- and Creatine-Dependent Gene Regulation in Murine Brains with l-Arginine:Glycine Amidinotransferase Deficiency.
Topics: Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Animals; Arginine; Brain; Creatine; Devel | 2020 |
Creatine, guanidinoacetate and homoarginine in statin-induced myopathy.
Topics: Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Animals; Creatine; Developmental Disabili | 2020 |
Treatment outcome of creatine transporter deficiency: international retrospective cohort study.
Topics: Adolescent; Adult; Arginine; Child; Child, Preschool; Creatine; Creatinine; Female; Genotype; Glycin | 2018 |
Role of a conserved glutamine in the function of voltage-gated Ca
Topics: Amino Acid Sequence; Calcium Channels, L-Type; Calcium Signaling; Conserved Sequence; Exome Sequenci | 2018 |
A conserved glycine harboring disease-associated mutations permits NMDA receptor slow deactivation and high Ca
Topics: Animals; Brain Diseases; Calcium; Cell Membrane Permeability; Child; Child, Preschool; Developmental | 2018 |
Creatine deficiency syndrome. A treatable myopathy due to arginine-glycine amidinotransferase (AGAT) deficiency.
Topics: Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Brain; Child; Creatine; Developmental Dis | 2013 |
Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring.
Topics: Adolescent; Adult; Arginine; Brain; Child; Child, Preschool; Combined Modality Therapy; Creatine; Fe | 2014 |
GAMT deficiency: 20 years of a treatable inborn error of metabolism.
Topics: Arginine; Creatine; Female; Glycine; Guanidinoacetate N-Methyltransferase; Humans; Intellectual Disa | 2014 |
Newborn screening for guanidinoacetate methyl transferase deficiency.
Topics: Arginine; Creatine; Diet; Female; Glycine; Guanidinoacetate N-Methyltransferase; Humans; Intellectua | 2014 |
Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwide.
Topics: Adolescent; Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Crea | 2015 |
GRIN1 mutation associated with intellectual disability alters NMDA receptor trafficking and function.
Topics: Adult; Cell Membrane; Child; Female; Glycine; Humans; Intellectual Disability; Male; Mutation; Nerve | 2017 |
Treatment by oral creatine, L-arginine and L-glycine in six severely affected patients with creatine transporter defect.
Topics: Administration, Oral; Adolescent; Amino Acid Transport Disorders, Inborn; Arginine; Child; Child, Pr | 2012 |
Nonketotic hyperglycinemia: a cause of encephalopathy in children.
Topics: Child; Female; Glycine; Humans; Hyperglycinemia, Nonketotic; Intellectual Disability; Lennox Gastaut | 2013 |
Methylation of the arginine-glycine-rich region in the fragile X mental retardation protein FMRP differentially affects RNA binding.
Topics: Arginine; Binding Sites; Cloning, Molecular; DNA Methylation; Escherichia coli; Fragile X Mental Ret | 2002 |
INDOLYLACROYL GLYCINE EXCRETION IN A FAMILY WITH MENTAL RETARDATION.
Topics: Amino Acid Metabolism, Inborn Errors; Body Fluids; Child; Glycine; Humans; Hydrogen-Ion Concentratio | 1963 |
A SIMPLE CHROMATOGRAPHIC SCREENING TEST FOR THE DETECTION OF DISORDERS OF AMINO ACID METABOLISM. A TECHNIC USING WHOLE BLOOD OR URINE COLLECTED ON FILTER PAPER.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Blood Chemical Analysis; Chromatography; Citrulli | 1964 |
A MULTIVARIATE ANALYSIS OF AMINO-ACID EXCRETIONS.
Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acids; Biomedical Research; Child; Chromatograp | 1964 |
EVALUATION OF THE AMINO ACID EXCRETION PATTERN OF MENTAL RETARDATES AS A SCREENING TECHNIQUE FOR INBORN ERRORS OF METABOLISM.
Topics: Adolescent; Alanine; Amino Acid Metabolism, Inborn Errors; Child; Chromatography; Creatine; Creatini | 1964 |
HYPERGLYCINEMIA. V. THE MISCIBLE POOL AND TURNOVER RATE OF GLYCINE AND THE FORMATION OF SERINE.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Blood; Child; Chromatography; Glycine; Humans; In | 1964 |
Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardation.
Topics: Abnormalities, Multiple; Adult; Alleles; Amino Acid Metabolism, Inborn Errors; Child; Creatinine; DN | 2005 |
Inhibition of energy metabolism by 2-methylacetoacetate and 2-methyl-3-hydroxybutyrate in cerebral cortex of developing rats.
Topics: 3-Hydroxyacyl CoA Dehydrogenases; Acetates; Acetoacetates; Acetyl-CoA C-Acyltransferase; Acidosis; A | 2005 |
A mutation on exon 6 of guanidinoacetate methyltransferase (GAMT) gene supports a different function for isoform a and b of GAMT enzyme.
Topics: Adolescent; DNA Mutational Analysis; Exons; Female; Glycine; Guanidinoacetate N-Methyltransferase; H | 2006 |
Severe episodic neurological deficits and permanent mental retardation in a child with a novel FHM2 ATP1A2 mutation.
Topics: Arginine; Blotting, Northern; Blotting, Western; Child; DNA Mutational Analysis; Electroencephalogra | 2006 |
Creatine transporter deficiency: prevalence among patients with mental retardation and pitfalls in metabolite screening.
Topics: Autistic Disorder; Child; Child, Preschool; Creatine; Creatinine; Glycine; Humans; Infant; Intellect | 2007 |
Treatment of hyperglycinemia.
Topics: Acidosis; Agranulocytosis; Amino Acid Metabolism, Inborn Errors; Blood Platelet Disorders; Child; Ch | 1967 |
Hypersarcosinemia. A newly described inborn error of metabolism.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Erythrocytes; Female; Glycine; Glyoxylates; Humans; I | 1967 |
Variability in the phenotypic expression of abnormal sarcosine metabolism in a family.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Child, Preschool; Female; Genetic Variation; Glycine; H | 1983 |
Urinary screening for abnormalities of amino acid or mucopolysaccharide metabolism in patients in a hospital for the mentally handicapped in Wessex.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Cystinuria; Electrophoresis, Cellulose Ace | 1983 |
[Patterns of urinary aminoacid excretion in exceptional children and patients with mental disorders in Costa Rica].
Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acids; Aminoisobutyric Acids; Child; Costa Rica | 1983 |
Nonketotic hyperglycinemia in two retarded adults: a mild form of infantile nonketotic hyperglycinemia.
Topics: Adolescent; Adult; Age Factors; Female; Glycine; Humans; Intellectual Disability; Male; Metabolism, | 1983 |
Isovaleric acidaemia presenting with dwarfism, cataract and congenital abnormalities.
Topics: Abnormalities, Multiple; Amino Acid Metabolism, Inborn Errors; Cataract; Child; Dwarfism; Female; Gl | 1982 |
Attempts at use of strychnine sulfate in the treatment of nonketotic hyperglycinemia.
Topics: Amino Acid Metabolism, Inborn Errors; Brain; Glycine; Humans; Infant; Infant, Newborn; Intellectual | 1980 |
Atypical nonketotic hyperglycinemia confirmed by assay of the glycine cleavage system in lymphoblasts.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Cells, Cultured; Female; Glycine; Humans; Intellec | 1993 |
Beneficial effects of L-serine and glycine in the management of seizures in 3-phosphoglycerate dehydrogenase deficiency.
Topics: Carbohydrate Dehydrogenases; Child; Child, Preschool; Drug Therapy, Combination; Electroencephalogra | 1998 |
Arginine methylation of a glycine and arginine rich peptide derived from sequences of human FMRP and fibrillarin.
Topics: Amino Acid Sequence; Animals; Arginine; Brain; Chromatography, High Pressure Liquid; Chromosomal Pro | 1999 |
Mental retardation and behavioral problems as presenting signs of a creatine synthesis defect.
Topics: Aspartic Acid; Body Fluids; Brain Diseases, Metabolic; Child, Preschool; Creatine; Diagnosis, Differ | 2000 |
Arginine:glycine amidinotransferase deficiency: the third inborn error of creatine metabolism in humans.
Topics: Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Base Sequence; Brain | 2001 |
Hyperglycinuria and hyperglycinemia in two siblings with mild developmental delays.
Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Developmental Disabilities; Electrophoresis; | 1978 |
Strychnine therapy in nonketotic hyperglycinemia.
Topics: Benzoates; Clonazepam; Drug Therapy, Combination; Electroencephalography; Enzymes; Female; Glycine; | 1979 |
Hyperglycinuria: a family report.
Topics: Child, Preschool; Cleft Palate; Female; Glycine; Heterozygote; Humans; Intellectual Disability; Rena | 1979 |
The neuropathology of the nonketotic and ketotic hyperglycinemias: three cases.
Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Corpus Callosum; Demyelinating Diseases; Fem | 1978 |
Neonatal non-ketotic hyperglycinemia: a clinical, biochemical and neuropathological study including electronmicroscopic findings.
Topics: Amino Acid Metabolism, Inborn Errors; Brain; Cerebral Hemorrhage; Female; Glycine; Humans; Infant, N | 1979 |
A new type of heterozygote of familial renal iminoglycinuria.
Topics: Female; Genetic Carrier Screening; Glycine; Humans; Hydroxyproline; Intellectual Disability; Male; M | 1978 |
Nonketotic hyperglycinemia: a clinical analysis of 19 Finnish patients.
Topics: Amino Acid Metabolism, Inborn Errors; Female; Finland; Glycine; Humans; Infant; Infant, Newborn; Int | 1978 |
Non-ketotic hyperglycinemia (NKH): an inborn error of metabolism affecting brain function exclusively.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Behavior, Animal; Glycine; Humans; Intellectual Disab | 1978 |
Inherited metabolic diseases of the nervous system.
Topics: Amino Acid Metabolism, Inborn Errors; Aspartylglucosaminuria; Carbohydrate Metabolism, Inborn Errors | 1976 |
Cerebrospinal fluid glycine in nonketotic hyperglycinemic: effect of treatment with sodium benzoate and a ventricular shunt.
Topics: Amino Acid Metabolism, Inborn Errors; Benzoates; Cerebrospinal Fluid Shunts; Female; Follow-Up Studi | 1977 |
Familial iminoglycinuria with normal intestinal absorption of glycine and imino acids in association with profound mental retardation, a possible "cerebral phenotype".
Topics: Amino Acid Metabolism, Inborn Errors; Female; Glycine; Humans; Hydroxyproline; Imino Acids; Infant; | 1976 |
D-glyceric acidemia: biohcemical studies of a new syndrome.
Topics: Alcohol Oxidoreductases; Amino Acid Metabolism, Inborn Errors; Child, Preschool; Chromatography, Gas | 1976 |
Biochemistry of mental retardation.
Topics: Aged; Citrulline; Female; Glycine; Histidine; Humans; Infant; Infant, Newborn; Intellectual Disabili | 1975 |
Identification of 4-methoxybenzoyl-N-glycine in urine by gas chromatography/mass spectrometry.
Topics: Anisoles; Child; Child, Preschool; Gas Chromatography-Mass Spectrometry; Glycine; Hippurates; Humans | 1991 |
Non-ketotic hyperglycinaemia: a new case with late onset.
Topics: Amino Acid Metabolism, Inborn Errors; Child; Glycine; Humans; Intellectual Disability; Male | 1990 |
Sarcosinaemia in a retarded, amaurotic child.
Topics: Amino Acid Metabolism, Inborn Errors; Blindness; Female; Glycine; Humans; Infant; Intellectual Disab | 1986 |
Nonketotic hyperglycinemia: studies in an atypical variant.
Topics: Adult; Developmental Disabilities; Glycine; Humans; Intellectual Disability; Ketosis; Male; Metaboli | 1989 |
Difficulties in assessing the effect of strychnine on the outcome of non-ketotic hyperglycinaemia. Observations on sisters with a mild T-protein defect.
Topics: Adolescent; Aminomethyltransferase; Arginine; Benzoates; Benzoic Acid; Child, Preschool; Drug Evalua | 1986 |
Isovaleric acidemia: results of family study and dietary treatment.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Child; Child, Preschool; Developmental Disabiliti | 1973 |
Urinary metabolic screening of mentally retarded patients from institutions in the northern part of Sweden.
Topics: Abnormalities, Multiple; Adolescent; Adult; Amino Acids; Child; Eye Diseases; Female; Glycine; Glyco | 1973 |
Screening for biochemical abnormalities in the urine of the mentally handicapped in Dublin.
Topics: Adolescent; Adult; Amino Acids; Arginine; Child; Child, Preschool; Chromatography, Paper; Cystinuria | 1972 |
[A population-biochemical study of mentally retarded persons in the Tula region (a geneologic analysis of families of probands with hereditary metabolic defects)].
Topics: Amino Acid Metabolism, Inborn Errors; Glycine; Homocystinuria; Humans; Inbreeding; Intellectual Disa | 1974 |
Cerebral gigantism: concentrations of amino acids in plasma and muscle.
Topics: Age Determination by Skeleton; Amino Acids; Arginine; Blood Glucose; Body Height; Child, Preschool; | 1970 |
Mental retardation associated with an unusual amino acid excretion pattern.
Topics: Acid Phosphatase; Adult; Alanine; Brain Chemistry; Cerebrosides; Child, Preschool; Chromatography, P | 1974 |
Letter: Hyperglycericacidaemia with hyperglycinaemia: a new inborn error of metabolism.
Topics: Child, Preschool; Chromatography, Thin Layer; Glyceric Acids; Glycine; Humans; Intellectual Disabili | 1974 |
Familial hyperprolinemia without mental retardation and hereditary nephropathy.
Topics: Amino Acid Metabolism, Inborn Errors; Epilepsy; Female; Glycine; Humans; Infant; Intellectual Disabi | 1972 |
Amino acid abnormality in Sjögren-Larsson syndrome.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Dental Enamel Hypoplasia; Epilepsy; Ethylamines; G | 1973 |
The clinical findings in a patient with nonketotic hyperglycinemia.
Topics: Amino Acid Metabolism, Inborn Errors; Diet Therapy; Glycine; Humans; Infant; Intellectual Disability | 1973 |
Cysteine peptiduria in a mentally retarded patient.
Topics: Adolescent; Amino Acids; Autoanalysis; Chromatography, Ion Exchange; Chromatography, Paper; Cysteine | 1973 |
[Lesch-Nyhan syndrome].
Topics: Aggression; Athetosis; Bites, Human; Chorea; Glycine; Humans; Hyperlipidemias; Intellectual Disabili | 1973 |
Lowe's syndrome. Absence of amino acid transport defect in cultured fibroblasts.
Topics: Ammonia; Biological Transport; Carbon Radioisotopes; Culture Techniques; Eye Diseases; Fibroblasts; | 1973 |
Clinical finding and therapeutic problems in non-ketotic hyperglycinemia.
Topics: Amino Acid Metabolism, Inborn Errors; Carbon Radioisotopes; Diet Therapy; Glycine; Humans; Hypotensi | 1973 |
Corneal opacity, microphthalmia, mental retardation, microcephaly and generalized muscular spasticity associated with hyperglycinemia.
Topics: Alkaline Phosphatase; Calcium; Cerebral Palsy; Chromosomes; Consanguinity; Corneal Opacity; Female; | 1974 |
The clinical and biochemical findings in three cases of hypersarcosinemia and one case of transient hypersarcosinuria associated with folic acid deficiency.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Anemia, Macrocytic; Electrophoresis; Female; Folic | 1974 |
Valine-sensitive nonketotic hyperglycinemia. Case report.
Topics: Administration, Oral; Amino Acid Metabolism, Inborn Errors; Benzoates; Brain Diseases; Brain Stem; C | 1974 |
Hyperprolinaemia type 2.
Topics: Adolescent; Chromatography, Paper; Electroencephalography; Epilepsy, Absence; Female; Glycine; Human | 1968 |
Mental retardation and the biochemistry of the developing brain.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Brain; Glycine; Humans; Intellectual Dis | 1972 |
Electroencephalographic findings in three patients with nonketotic hyperglycinemia.
Topics: Amino Acid Metabolism, Inborn Errors; Electroencephalography; Glycine; Humans; Infant; Infant, Newbo | 1971 |
Nonketotic hyperglycinemia.
Topics: Agranulocytosis; Amino Acid Metabolism, Inborn Errors; Benzoates; Body Weight; Carbon Isotopes; Diet | 1969 |
[Amino acid excretion in urine and enzyme activities in blood of persons from 3 families with mental deficiency].
Topics: Acid Phosphatase; Adolescent; Adult; Alanine; Alkaline Phosphatase; Amino Acids; Aspartate Aminotran | 1969 |
Nonketotic hyperglycinemia: an in vitro study of the glycine-serine conversion in liver of three patients and the effect of dietary methionine.
Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Biopsy; Carbon Isotopes; Culture Techniques; Diet Th | 1970 |
Mechanism of excessive purine biosynthesis in hypoxanthine-guanine phosphoribosyltransferase deficiency.
Topics: Adult; Allopurinol; Athetosis; Carbon Isotopes; Child; Chorea; Compulsive Behavior; Deficiency Disea | 1970 |
The influence of adenine on the clinical features and purine metabolism in the Lesch-Nyhan syndrome.
Topics: Adenine; Allopurinol; Athetosis; Bone Marrow; Carbon Isotopes; Child; Child, Preschool; Chorea; Comp | 1970 |
The significance of the deficiency state in Lesch-Nyhan disease.
Topics: Allopurinol; Amino Acids; Athetosis; Carbon Isotopes; Child, Preschool; Chorea; Compulsive Behavior; | 1970 |
Effect of phenylalanine on protein synthesis in the developing rat brain.
Topics: Acetates; Age Factors; Animals; Brain; Carbon Isotopes; Female; Glycine; Humans; Intellectual Disabi | 1970 |
Nonketotic hyperglycinaemia. Clinical findings and amino acid analyses on the plasma of a new case.
Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Child, Preschool; Diet Therapy; Dietary Proteins; Fe | 1970 |
Clinical and cellular studies of sarcosinemia.
Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Culture Techniques; Fibroblasts; Glycine; Hu | 1970 |
Unrecognized maternal biochemical disease: an uncommon cause of mental retardation in children.
Topics: Child; Cystinuria; Female; Glycine; Humans; Infant, Newborn; Intellectual Disability; Lysine; Metabo | 1970 |
Methylmalonic aciduria. An inborn error leading to metabolic acidosis, long-chain ketonuria and intermittent hyperglycinemia.
Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Chromatography, Thin Layer; Coenzyme A; Dietary Prot | 1968 |
Importance of the single case.
Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Coenzyme A; Glycine; Humans; Infant; Intellectual Di | 1968 |
Familial iminoglycinuria. An inborn error of renal tubular transport.
Topics: Adult; Child; Chromosome Aberrations; Chromosome Disorders; Deafness; Female; Genotype; Glycine; Het | 1968 |
Hyperuricosuric encephalopathy without hyperuricaemia.
Topics: Amino Acid Metabolism, Inborn Errors; Body Weight; Brain Diseases; Carbon Isotopes; Child, Preschool | 1968 |
Congenital cataract, mental retardation and amino-aciduria. Amino-acid excretion determined by high-voltage electrophoresis in patients with mental retardation and congenital cataract.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Biological Transport; Cataract; Electrophoresis; | 1968 |
Observations on the coexistence of methylmalonic acidemia and glycinemia.
Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Female; Genes, Recessive; Glycine; Hepatomegaly; Hum | 1969 |
Studies in a patient with methylmalonic acidemia.
Topics: Amino Acid Metabolism, Inborn Errors; Diet; Dietary Proteins; Glycine; Humans; Infant; Infant, Newbo | 1969 |
A defect in intestinal amino acid transport in Lowe's syndrome.
Topics: Adult; Arginine; Biopsy; Carbon Isotopes; Cataract; Child, Preschool; Glaucoma; Glycine; Humans; Int | 1969 |
A new disorder of purine metabolism with behavioral manifestations.
Topics: Adenine; Allopurinol; Autistic Disorder; Carbon Isotopes; Child Behavior Disorders; Child, Preschool | 1969 |
Metabolic traits in mentally retarded children as compared with normal populations: monoaminodicarboxylic acids and their half amides and total amino acids.
Topics: Adolescent; Alanine; Amino Acids; Arginine; Asparagine; Aspartic Acid; Child; Child, Preschool; Chro | 1969 |
[Hyperprolinemia and hydroxyprolinemia].
Topics: Amino Acid Metabolism, Inborn Errors; Child; Collagen; Consanguinity; Female; Genes, Recessive; Glyc | 1969 |
Hyperuricaemia: some biochemical aspects.
Topics: Adenine; Carbon Isotopes; Glycine; Humans; In Vitro Techniques; Intellectual Disability; Metabolic D | 1969 |
Mental retardation, abnormal hair and mild aminoaciduria, all of unknown aetiology, in siblings.
Topics: Alanine; Child, Preschool; Female; Fluoroscopy; Glutamine; Glycine; Hair; Humans; Intellectual Disab | 1969 |
A new type of idiopathic hyperglycinemia with hypo-oxaluria.
Topics: Amino Acid Metabolism, Inborn Errors; Blood; Cerebrospinal Fluid; Child, Preschool; Chromatography; | 1965 |