Disease

Isovaleric Acidemia

About the Disease
Isovaleric Acidemia, also known as isovaleric acid coa dehydrogenase deficiency, is related to carbonic anhydrase va deficiency, hyperammonemia due to and acyl-coa dehydrogenase deficiency, and has symptoms including lethargy, seizures and vomiting. An important gene associated with Isovaleric Acidemia is IVD (Isovaleryl-CoA Dehydrogenase), and among its related pathways/superpathways are Metabolism and Regulation of expression of SLITs and ROBOs. Affiliated tissues include bone marrow, bone and cortex, and related phenotypes are global developmental delay and metabolic acidosis

Common Targets
IVD | PANK3

疾病靶点研报
Isovaleric Acidemia

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