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glycocyamine and Inborn Errors of Metabolism

glycocyamine has been researched along with Inborn Errors of Metabolism in 10 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)

Research

Studies (10)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's2 (20.00)18.2507
2000's7 (70.00)29.6817
2010's1 (10.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Mercimek-Mahmutoglu, S2
Dunbar, M1
Friesen, A1
Garret, S1
Hartnett, C1
Huh, L1
Sinclair, G1
Stockler, S1
Wellington, S1
Pouwels, PJ1
Salomons, GS3
Jakobs, C2
Stromberger, C1
Bodamer, OA1
Stöckler-Ipsiroglu, S2
Renema, WK1
Schmidt, A1
van Asten, JJ1
Oerlemans, F1
Ullrich, K1
Wieringa, B1
Isbrandt, D1
Heerschap, A1
Stoeckler-Ipsiroglu, S1
Adami, A1
Appleton, R1
Araújo, HC1
Duran, M1
Ensenauer, R1
Fernandez-Alvarez, E1
Garcia, P1
Grolik, C1
Item, CB1
Leuzzi, V2
Marquardt, I1
Mühl, A2
Saelke-Kellermann, RA1
Schulze, A3
Surtees, R1
van der Knaap, MS1
Vasconcelos, R1
Verhoeven, NM1
Vilarinho, L1
Wilichowski, E1
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
Young, S1
Struys, E1
Wood, T1
Mayatepek, E2
Rating, D2
Bremer, HJ1
Bachert, P1
Marescau, B1
De Deyn, PP1
Ilas, J1
Carducci, C2
Prudente, S1
Mercuri, L1
Antonozzi, I1

Reviews

1 review available for glycocyamine and Inborn Errors of Metabolism

ArticleYear
Clinical characteristics and diagnostic clues in inborn errors of creatine metabolism.
    Journal of inherited metabolic disease, 2003, Volume: 26, Issue:2-3

    Topics: Creatine; Glycine; Guanidinoacetate N-Methyltransferase; Humans; Metabolism, Inborn Errors; Methyltr

2003

Other Studies

9 other studies available for glycocyamine and Inborn Errors of Metabolism

ArticleYear
Evaluation of two year treatment outcome and limited impact of arginine restriction in a patient with GAMT deficiency.
    Molecular genetics and metabolism, 2012, Volume: 105, Issue:1

    Topics: Arginine; Child, Preschool; Diet; Female; Glycine; Guanidinoacetate N-Methyltransferase; Humans; Inf

2012
MR spectroscopy of muscle and brain in guanidinoacetate methyltransferase (GAMT)-deficient mice: validation of an animal model to study creatine deficiency.
    Magnetic resonance in medicine, 2003, Volume: 50, Issue:5

    Topics: Animals; Brain; Brain Chemistry; Creatine; Glycine; Guanidinoacetate N-Methyltransferase; Hindlimb;

2003
GAMT deficiency: features, treatment, and outcome in an inborn error of creatine synthesis.
    Neurology, 2006, Aug-08, Volume: 67, Issue:3

    Topics: Adolescent; Adult; Child; Creatine; Epilepsy; Female; Glycine; Guanidinoacetate N-Methyltransferase;

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
Quantification of creatine and guanidinoacetate using GC-MS and LC-MS/MS for the detection of cerebral creatine deficiency syndromes.
    Current protocols in human genetics, 2007, Volume: Chapter 17

    Topics: Chromatography, High Pressure Liquid; Creatine; Gas Chromatography-Mass Spectrometry; Glycine; Human

2007
Sakaguchi reaction: a useful method for screening guanidinoacetate-methyltransferase deficiency.
    Journal of inherited metabolic disease, 1996, Volume: 19, Issue:5

    Topics: Child, Preschool; Chromatography, Thin Layer; Female; Glycine; Guanidinoacetate N-Methyltransferase;

1996
Therapeutic trial of arginine restriction in creatine deficiency syndrome.
    European journal of pediatrics, 1998, Volume: 157, Issue:7

    Topics: Arginine; Child, Preschool; Creatine; Female; Glycine; Guanidinoacetate N-Methyltransferase; Humans;

1998
Guanidinoacetate methyltransferase (GAMT) deficiency: non-invasive enzymatic diagnosis of a newly recognized inborn error of metabolism.
    Clinica chimica acta; international journal of clinical chemistry, 2000, Jan-05, Volume: 290, Issue:2

    Topics: Amniotic Fluid; Cells, Cultured; Chromatography, High Pressure Liquid; Creatine; Female; Fetal Disea

2000
Two new severe mutations causing guanidinoacetate methyltransferase deficiency.
    Molecular genetics and metabolism, 2000, Volume: 71, Issue:4

    Topics: Base Sequence; Cells, Cultured; Child, Preschool; Chromatography, High Pressure Liquid; Creatine; Cr

2000