Page last updated: 2024-10-18

glycocyamine and Argininosuccinic Aciduria

glycocyamine has been researched along with Argininosuccinic Aciduria in 2 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.

Argininosuccinic Aciduria: Rare autosomal recessive disorder of the urea cycle which leads to the accumulation of argininosuccinic acid in body fluids and severe HYPERAMMONEMIA. Clinical features of the neonatal onset of the disorder include poor feeding, vomiting, lethargy, seizures, tachypnea, coma, and death. Later onset results in milder set of clinical features including vomiting, failure to thrive, irritability, behavioral problems, or psychomotor retardation. Mutations in the ARGININOSUCCINATE LYASE gene cause the disorder.

Research Excerpts

ExcerptRelevanceReference
"MR spectroscopy in a patient with argininosuccinate lyase deficiency revealed elevated cerebral guanidinoacetate signals, indicating that the phenomenon of increased levels of this compound in brain tissue is not limited to creatine deficiencies."1.33Cerebral 1H MR spectroscopy showing elevation of brain guanidinoacetate in argininosuccinate lyase deficiency. ( Oudkerk, M; Reijngoud, DJ; Sijens, PE; Soorani-Lunsing, RJ; van Spronsen, FJ, 2006)

Research

Studies (2)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's2 (100.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Sijens, PE2
Reijngoud, DJ2
Soorani-Lunsing, RJ2
Oudkerk, M1
van Spronsen, FJ2
Verhoeven, NM1
Jakobs, C1

Other Studies

2 other studies available for glycocyamine and Argininosuccinic Aciduria

ArticleYear
Cerebral 1H MR spectroscopy showing elevation of brain guanidinoacetate in argininosuccinate lyase deficiency.
    Molecular genetics and metabolism, 2006, Volume: 88, Issue:1

    Topics: Amino Acid Metabolism, Inborn Errors; Argininosuccinic Aciduria; Brain Chemistry; Child, Preschool;

2006
High cerebral guanidinoacetate and variable creatine concentrations in argininosuccinate synthetase and lyase deficiency: implications for treatment?
    Molecular genetics and metabolism, 2006, Volume: 89, Issue:3

    Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Argininosuccinate Synthase; Argininosuccinic Aciduri

2006