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.
Excerpt | Relevance | Reference |
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"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) |
" 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) |
"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) |
"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) |
Timeframe | Studies, this research(%) | All Research% |
---|---|---|
pre-1990 | 0 (0.00) | 18.7374 |
1990's | 0 (0.00) | 18.2507 |
2000's | 6 (46.15) | 29.6817 |
2010's | 5 (38.46) | 24.3611 |
2020's | 2 (15.38) | 2.80 |
Authors | Studies |
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Balestrino, M | 1 |
Adriano, E | 1 |
Neu, A | 1 |
Hornig, S | 1 |
Sasani, A | 1 |
Isbrandt, D | 1 |
Gerloff, C | 1 |
Tsikas, D | 1 |
Schwedhelm, E | 1 |
Choe, CU | 1 |
Ostojic, SM | 1 |
Nouioua, S | 2 |
Cheillan, D | 1 |
Zaouidi, S | 1 |
Salomons, GS | 3 |
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 | 1 |
Geraghty, M | 1 |
Haliloglu, G | 1 |
Konstantopoulou, V | 1 |
Leuzzi, V | 2 |
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 | 1 |
van Spronsen, FJ | 1 |
Verbruggen, KT | 1 |
Yuskiv, N | 1 |
Nyhan, W | 1 |
Schulze, A | 1 |
Braissant, O | 2 |
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 |
Caldeira Araújo, H | 1 |
Smit, W | 1 |
Verhoeven, NM | 2 |
Silva, S | 1 |
Vasconcelos, R | 1 |
Tomás, H | 1 |
Tavares de Almeida, I | 1 |
Jakobs, C | 2 |
Duran, M | 1 |
Carducci, C | 2 |
Matricardi, M | 1 |
Bianchi, MC | 2 |
Di Sabato, ML | 1 |
Artiola, C | 1 |
Antonozzi, I | 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 |
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 |
2 reviews available for glycocyamine and Deficiency, Mental
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 |
11 other studies available for glycocyamine and Deficiency, Mental
Article | Year |
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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 |
Creatine, guanidinoacetate and homoarginine in statin-induced myopathy.
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.
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 |
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 |
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 |
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 |
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 |
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 |