Other biotin-dependent carboxylase deficiency
ICD-10 D81.818 is a billable code used to indicate a diagnosis of other biotin-dependent carboxylase deficiency.
Other biotin-dependent carboxylase deficiency refers to a group of inherited metabolic disorders characterized by a deficiency in one or more biotin-dependent carboxylases. These enzymes are crucial for various metabolic pathways, including fatty acid synthesis and amino acid metabolism. The deficiency can lead to a range of clinical manifestations, including neurological symptoms, metabolic acidosis, and skin rashes. Patients may present with developmental delays, seizures, and hypotonia. Laboratory findings often reveal elevated levels of organic acids in urine, particularly 3-hydroxyisovaleric acid and other metabolites. Early diagnosis and management are essential to prevent irreversible damage and improve outcomes. Treatment typically involves biotin supplementation and dietary modifications to manage symptoms and metabolic derangements. The condition is rare, and its complexity often requires a multidisciplinary approach for effective management.
Detailed growth and developmental assessments, metabolic screening results, and family history.
Infants presenting with developmental delays, seizures, or metabolic crises.
Consideration of genetic counseling for families, as the condition is inherited.
Genetic testing results, family pedigree, and detailed clinical evaluations.
Patients with a family history of metabolic disorders or unexplained neurological symptoms.
Documentation of genetic counseling and potential implications for family members.
Used when genetic testing is performed to confirm the diagnosis.
Documentation of clinical indications for testing and results.
Genetic counseling may be necessary based on results.
Common symptoms include developmental delays, seizures, hypotonia, metabolic acidosis, and skin rashes. Symptoms can vary widely among individuals.
