Disease

Argininosuccinic Aciduria

About the Disease
Argininosuccinic Aciduria, also known as argininosuccinate lyase deficiency, is related to carbamoyl phosphate synthetase i deficiency, hyperammonemia due to and carbonic anhydrase va deficiency, hyperammonemia due to, and has symptoms including ataxia, lethargy and seizures. An important gene associated with Argininosuccinic Aciduria is ASL (Argininosuccinate Lyase), and among its related pathways/superpathways are Metabolism and Regulation of expression of SLITs and ROBOs. The drugs Carbamide peroxide and Ornithine have been mentioned in the context of this disorder. Affiliated tissues include liver, skin and bone marrow, and related phenotypes are aminoaciduria and oroticaciduria

Common Targets
DAO | CPS1 | ASL | ASS1 | Histone deacetylase (nonspecified subtype)

疾病靶点研报
Argininosuccinic Aciduria

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