E71.110

Approximate Synonyms

• Acidemia, isovaleric

• Isovaleryl-coa dehydrogenase deficiency

Clinical Information

• 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.

• Autosomal recessive aminoacidopathy due to deficiency of isovaleryl-coa dehydrogenase, with elevated plasma isovaleric acid and urinary isovaleric acid and isovalerylglycine, causing a characteristic odor of sweaty feet; clinical signs include severe acidosis and ketosis, lethargy, convulsions, pernicious vomiting, thrombocytopenia, neutropenia, and pancytopenia.

Details

• E71.110 is a billable/specific ICD-10-CM code that can be used to indicate a diagnosis for reimbursement purposes.

• The 2023 edition of ICD-10-CM E71.110 became effective on October 1, 2022.

• This is the American ICD-10-CM version of E71.110 – other international versions of ICD-10 E71.110 may differ.