Isovaleric Acidemia: Causes, Symptoms, Diagnosis
Isovaleric acidemia (IVA) is a rare autosomal recessive metabolic disorder caused by a deficiency of the enzyme isovaleryl-CoA dehydrogenase. This enzyme is essential for breaking down leucine, an amino acid found in proteins. Without proper enzyme function, toxic levels of isovaleric acid accumulate in the body, leading to serious health complications. Causes and Genetic Basis