Isovaleric Acidemia

**Semantic type:** Disease or Syndrome

**Definition:** A rare autosomal recessive inherited disorder caused by mutations in the IVD gene. It is characterized by abnormalities in the metabolism of leucine. Signs and symptoms vary from very mild to life threatening and include vomiting, seizures, lethargy, and coma.

**Synonyms:** - Isovalericacidemia - Isovaleryl-CoA Dehydrogenase Deficiency