Isovaleric acidemia

Isovaleric acidemia is an inborn error of metabolism that arises due to mutations in isovaleryl-CoA dehydrogenase (IVD), a mitochondrial enzyme that catalyzes the third step in the catabolic pathway for leucine, the conversion of isovaleryl-CoA and FAD to beta-methylcrotonyl-CoA and FADH2. Isovaleric acidemia has variable clinical presentation and lacks a clear correspondence between genotypic alterations and phenotypic outcome. Symptoms include vomiting, seizures, low energy, and a characteristic sweaty foot odor due to presence of isovaleric acid, 3-hydroxyisovaleric acid, isovarleryl-glycine and isovaleryl-carnitine in blood and urine.

Summary from Reactome (R-HSA-9914355), read 2026-09-23.