Isovaleric acidemia is a rare disorder involving deficiency of isovaleryl-CoA dehydrogenase, which is needed in the leucine oxidative pathway. It is an autosomal recessive condition that can be diagnosed in utero. Symptoms include poor feeding, protein intolerance, metabolic acidosis, seizures, and an odor of sweaty feet during the first few days of life. Coma and death can result if not treated. Some patients have a more chronic course, with symptoms of vomiting, lethargy, hair loss, and pancreatitis. If suspected in a newborn, a urine organic acid chromatography test can consistently detect isovalerylglycine for diagnosis.

Treatment involves a low-protein, low-leucine diet. Conjugation with glycine or carnitine can help maintain metabolic stability.