Isovaleric acidemia (IVA)


Isovaleric acidemia (IVA) is an inborn error of metabolism, an inherited condition in which an enzyme, isovaleryl-CoA dehydrogenase, in the body is either missing or not working well and the body has difficulty breaking down the amino acid leucine (a part of protein). IVA is an organic acid condition because it can lead to the build-up of harmful amounts of organic acids and toxins in the body. Symptoms of IVA can vary and may include poor appetite or feeding, vomiting, extreme tiredness/lethargy, a “sweaty feet” odor, failure to grow as expected, seizures and/or other potential signs and symptoms. Isovaleric acidemia can be a life-threatening condition. Illnesses or infections or eating large amounts of protein are some examples of circumstances that could also trigger symptoms of IVA. Management often includes a special diet, medication/supplements, other special precautions and emergency management recommendations. Early detection and intervention can benefit children with this condition. Support groups are available to help connect families living with IVA with others who have experience or expertise with this condition.

For more information about Isovaleric acidemia, visit Baby's First Test: Isovaleric acidemia and Screening, Technology, and Research in Genetics (STAR-G): Isovaleric Acidemia. Please see Medically Prescribed Formula for information about medically prescribed formula and pharmacologic interventions for inborn errors of metabolism. A listing of contact information for Minnesota inborn errors of metabolism medical specialty providers/clinics serving children affected with or undergoing evaluation for conditions that can be detected through Minnesota Newborn Screening is available upon request.