Isovaleric acidemia
ICD-10 E71.110 is a billable code used to indicate a diagnosis of isovaleric acidemia.
Isovaleric acidemia (IVA) is a rare autosomal recessive metabolic disorder characterized by a deficiency of the enzyme isovaleryl-CoA dehydrogenase, which is crucial for the metabolism of the branched-chain amino acid leucine. This deficiency leads to the accumulation of isovaleric acid in the body, resulting in a range of clinical manifestations. Symptoms typically present in infancy and can include metabolic acidosis, lethargy, vomiting, and a distinctive 'sweaty feet' odor due to the accumulation of isovaleric acid. If left untreated, IVA can lead to severe neurological damage and can be life-threatening. Diagnosis is confirmed through urine organic acid analysis, which reveals elevated levels of isovaleric acid. Management involves dietary restrictions to limit leucine intake and supplementation with carnitine to help remove excess isovaleric acid. Early diagnosis and intervention are critical to improving outcomes for affected individuals.
Detailed history of symptoms, family history of metabolic disorders, and results from metabolic testing.
Infants presenting with vomiting, lethargy, and unusual odor.
Close monitoring of dietary intake and metabolic status is essential.
Genetic testing results, family pedigree, and metabolic screening outcomes.
Patients with a family history of metabolic disorders undergoing genetic counseling.
Documentation should include genetic counseling notes and recommendations for family screening.
Used when genetic confirmation of isovaleric acidemia is needed.
Documentation of clinical suspicion and family history.
Genetic counseling may be required for family members.
Common symptoms include metabolic acidosis, lethargy, vomiting, and a distinctive odor resembling sweaty feet.
Diagnosis is typically made through urine organic acid analysis, which shows elevated levels of isovaleric acid.
Management includes dietary restrictions to limit leucine intake and supplementation with carnitine to help remove excess isovaleric acid.
