Disease

Glutaric Aciduria Type 1

About the Disease
Glutaric Acidemia I, also known as glutaryl-coa dehydrogenase deficiency, is related to multiple acyl-coa dehydrogenase deficiency and 2-hydroxyglutaric aciduria, and has symptoms including muscle rigidity and opisthotonus. An important gene associated with Glutaric Acidemia I is GCDH (Glutaryl-CoA Dehydrogenase), and among its related pathways/superpathways are Metabolism and Fatty acid metabolism. The drugs Carbamide peroxide and Ornithine have been mentioned in the context of this disorder. Affiliated tissues include brain, caudate nucleus and kidney, and related phenotypes are abnormal enzyme/coenzyme activity and glutaric aciduria

Common Targets
AASS | ACY1 | GCDH

疾病靶点研报
Glutaric Aciduria Type 1

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