D81.818

Applicable To

• Holocarboxylase synthetase deficiency

• Other multiple carboxylase deficiency

Approximate Synonyms

• Deficiency, holocarboxylase synthease

• Holocarboxylase synthase deficiency

Clinical Information

• A rare autosomal recessive inherited disorder caused by mutations in the hlcs gene. It is characterized by deficiency of the enzyme holocarboxylase synthetase which facilitates the effective use of the vitamin biotin in the body. Signs and symptoms appear early in life and include breathing difficulties, feeding difficulties, alopecia, skin rash, and lethargy. Lifelong administration of biotin supplements is required. If it is not treated properly, it may lead to developmental delays, seizures, and coma.

• A rare autosomal recessive inherited disorder that is manifested in the neonatal period and is caused by mutations in the hlcs gene. It is characterized by deficiency of the enzyme holocarboxylase synthetase which facilitates the effective use of the vitamin biotin in the body. Signs and symptoms include difficulties in feeding and breathing, skin rash, seizures, lethargy, and coma.

• The neonatal form of multiple carboxylase deficiency that is caused by a defect or deficiency in holocarboxylase synthetase. Hlcs is the enzyme that covalently links biotin to the biotin dependent carboxylases propionyl-coa-carboxylase, pyruvate carboxylase, and beta-methylcrotonyl-coa carboxylase).

Details

• D81.818 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 D81.818 became effective on October 1, 2022.

• This is the American ICD-10-CM version of D81.818 – other international versions of ICD-10 D81.818 may differ.