Page last updated: 2024-10-17

creatine and Argininosuccinic Aciduria

creatine has been researched along with Argininosuccinic Aciduria in 3 studies

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
" The goal of this study was to understand the effect on the known toxic metabolite ASA and the assumed toxic metabolite guanidinosuccinic acid (GSA) on developing brain cells, and to evaluate the potential role of creatine (Cr) supplementation, as it was described protective for brain cells exposed to ammonia."2.61Argininosuccinate neurotoxicity and prevention by creatine in argininosuccinate lyase deficiency: An in vitro study in rat three-dimensional organotypic brain cell cultures. ( Braissant, O; Diez-Fernandez, C; Diserens, G; Häberle, J; Henry, H; Hertig, D; Loup, M; Nuoffer, JM; Vermathen, P, 2019)

Research

Studies (3)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's2 (66.67)29.6817
2010's1 (33.33)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Diez-Fernandez, C1
Hertig, D1
Loup, M1
Diserens, G1
Henry, H1
Vermathen, P1
Nuoffer, JM1
Häberle, J2
Braissant, O1
van Spronsen, FJ1
Reijngoud, DJ1
Verhoeven, NM1
Soorani-Lunsing, RJ1
Jakobs, C1
Sijens, PE1
Roze, E1
Azuar, C1
Menuel, C1
Guillevin, R1

Reviews

1 review available for creatine and Argininosuccinic Aciduria

ArticleYear
Argininosuccinate neurotoxicity and prevention by creatine in argininosuccinate lyase deficiency: An in vitro study in rat three-dimensional organotypic brain cell cultures.
    Journal of inherited metabolic disease, 2019, Volume: 42, Issue:6

    Topics: Animals; Argininosuccinic Acid; Argininosuccinic Aciduria; Brain; Cells, Cultured; Creatine; Humans;

2019

Other Studies

2 other studies available for creatine and Argininosuccinic Aciduria

ArticleYear
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
Usefulness of magnetic resonance spectroscopy in urea cycle disorders.
    Pediatric neurology, 2007, Volume: 37, Issue:3

    Topics: Adult; Argininosuccinic Aciduria; Brain Diseases, Metabolic; Creatine; Female; Humans; Magnetic Reso

2007