Page last updated: 2024-10-20

pteridines and Argininosuccinic Aciduria

pteridines has been researched along with Argininosuccinic Aciduria in 1 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

Studies (1)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's1 (100.00)18.2507
2000's0 (0.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Vion-Dury, J1
Salvan, AM1
Confort-Gouny, S1
Cozzone, PJ1

Other Studies

1 other study available for pteridines and Argininosuccinic Aciduria

ArticleYear
Atlas of brain proton magnetic resonance spectra. Part II: Inherited metabolic encephalopathies.
    Journal of neuroradiology = Journal de neuroradiologie, 1998, Volume: 25, Issue:4

    Topics: Adipates; Adult; Anatomy, Artistic; Argininosuccinic Acid; Argininosuccinic Aciduria; Brain; Brain D

1998