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glycocyamine and Deficiency, Mental

glycocyamine has been researched along with Deficiency, Mental in 13 studies

glycocyamine: RN given refers to parent cpd; structure
guanidinoacetate : A monocarboxylic acid anion that is the conjugate base of guanidinoacetic acid, obtained by deprotonation of the carboxy group.
guanidinoacetic acid : The N-amidino derivative of glycine.

Research Excerpts

ExcerptRelevanceReference
"We determined creatine/creatinine ratio in urine samples from 1600 unrelated male patients with mental retardation and/or autism."3.74Creatine 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)
" AGAT patients might benefit from oral GAA due to upgraded bioavailability and convenient utilization of the compound, while possible drawbacks (e."2.61Benefits 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."1.42Arginine: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)
"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."1.33A 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)
"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."1.31Arginine: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)

Research

Studies (13)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's6 (46.15)29.6817
2010's5 (38.46)24.3611
2020's2 (15.38)2.80

Authors

AuthorsStudies
Balestrino, M1
Adriano, E1
Neu, A1
Hornig, S1
Sasani, A1
Isbrandt, D1
Gerloff, C1
Tsikas, D1
Schwedhelm, E1
Choe, CU1
Ostojic, SM1
Nouioua, S2
Cheillan, D1
Zaouidi, S1
Salomons, GS3
Amedjout, N1
Kessaci, F1
Boulahdour, N1
Hamadouche, T1
Tazir, M2
Stockler-Ipsiroglu, S4
van Karnebeek, C1
Longo, N1
Korenke, GC1
Mercimek-Mahmutoglu, S1
Marquart, I1
Barshop, B1
Grolik, C1
Schlune, A1
Angle, B1
Araújo, HC1
Coskun, T1
Diogo, L1
Geraghty, M1
Haliloglu, G1
Konstantopoulou, V1
Leuzzi, V2
Levtova, A1
Mackenzie, J1
Maranda, B1
Mhanni, AA1
Mitchell, G1
Morris, A1
Newlove, T1
Renaud, D1
Scaglia, F1
Valayannopoulos, V1
van Spronsen, FJ1
Verbruggen, KT1
Yuskiv, N1
Nyhan, W1
Schulze, A1
Braissant, O2
Apatean, D1
Battini, R1
DeBrosse, S1
Dessoffy, K1
Edvardson, S1
Eichler, F1
Johnston, K1
Koeller, DM1
Verma, A1
Dowling, MD1
Wierenga, KJ1
Wierenga, AM1
Zhang, V1
Wong, LJ1
Caldeira Araújo, H1
Smit, W1
Verhoeven, NM2
Silva, S1
Vasconcelos, R1
Tomás, H1
Tavares de Almeida, I1
Jakobs, C2
Duran, M1
Carducci, C2
Matricardi, M1
Bianchi, MC2
Di Sabato, ML1
Artiola, C1
Antonozzi, I1
Arias, A1
Corbella, M1
Fons, C1
Sempere, A1
García-Villoria, J1
Ormazabal, A1
Poo, P1
Pineda, M1
Vilaseca, MA1
Campistol, J1
Briones, P1
Pàmpols, T1
Ribes, A1
Artuch, R1
Henry, H1
van der Knaap, MS1
Maaswinkel-Mooij, P1
Pouwels, PJ1
Onkenhout, W1
Peeters, EA1
Item, CB1
Stromberger, C1
Mühl, A1
Alessandrì, MG1
Tosetti, M1
Fornai, F1
Cioni, G1

Reviews

2 reviews available for glycocyamine and Deficiency, Mental

ArticleYear
Benefits and drawbacks of guanidinoacetic acid as a possible treatment to replenish cerebral creatine in AGAT deficiency.
    Nutritional neuroscience, 2019, Volume: 22, Issue:5

    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.
    Journal of inherited metabolic disease, 2008, Volume: 31, Issue:2

    Topics: Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Animals; Brain; Creatine; Developmental D

2008

Other Studies

11 other studies available for glycocyamine and Deficiency, Mental

ArticleYear
Presence of guanidinoacetate may compensate creatine absence and account for less statin-induced muscle damage in GAMT-deficient compared to AGAT-deficient mice.
    Amino acids, 2020, Volume: 52, Issue:4

    Topics: Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Animals; Creatine; Developmental Disabili

2020
Creatine, guanidinoacetate and homoarginine in statin-induced myopathy.
    Amino acids, 2020, Volume: 52, Issue:6-7

    Topics: Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Animals; Creatine; Developmental Disabili

2020
Creatine deficiency syndrome. A treatable myopathy due to arginine-glycine amidinotransferase (AGAT) deficiency.
    Neuromuscular disorders : NMD, 2013, Volume: 23, Issue:8

    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.
    Molecular genetics and metabolism, 2014, Volume: 111, Issue:1

    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.
    Molecular genetics and metabolism, 2014, Volume: 111, Issue:1

    Topics: Arginine; Creatine; Female; Glycine; Guanidinoacetate N-Methyltransferase; Humans; Intellectual Disa

2014
Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwide.
    Molecular genetics and metabolism, 2015, Volume: 116, Issue:4

    Topics: Adolescent; Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Crea

2015
Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardation.
    American journal of medical genetics. Part A, 2005, Mar-01, Volume: 133A, Issue:2

    Topics: Abnormalities, Multiple; Adult; Alleles; Amino Acid Metabolism, Inborn Errors; Child; Creatinine; DN

2005
A mutation on exon 6 of guanidinoacetate methyltransferase (GAMT) gene supports a different function for isoform a and b of GAMT enzyme.
    Molecular genetics and metabolism, 2006, Volume: 87, Issue:1

    Topics: Adolescent; DNA Mutational Analysis; Exons; Female; Glycine; Guanidinoacetate N-Methyltransferase; H

2006
Creatine transporter deficiency: prevalence among patients with mental retardation and pitfalls in metabolite screening.
    Clinical biochemistry, 2007, Volume: 40, Issue:16-17

    Topics: Autistic Disorder; Child; Child, Preschool; Creatine; Creatinine; Glycine; Humans; Infant; Intellect

2007
Mental retardation and behavioral problems as presenting signs of a creatine synthesis defect.
    Annals of neurology, 2000, Volume: 47, Issue:4

    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.
    American journal of human genetics, 2001, Volume: 69, Issue:5

    Topics: Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Base Sequence; Brain

2001