Isovaleric Acidemia (IVA)

Isovaleric Acidemia, also known as isovaleric acid coa dehydrogenase deficiency, is related to acyl-coa dehydrogenase deficiency and long-chain 3-hydroxyacyl-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 and bone, and related phenotypes are global developmental delay and metabolic acidosis