Biotin-dependent carboxylase deficiency
ICD-10 D81.81 is a billable code used to indicate a diagnosis of biotin-dependent carboxylase deficiency.
Biotin-dependent carboxylase deficiency is a rare inherited metabolic disorder characterized by a deficiency in one or more of the biotin-dependent carboxylase enzymes. These enzymes play a crucial role in the metabolism of carbohydrates, fats, and proteins. The deficiency leads to a range of clinical manifestations, including developmental delays, neurological symptoms, and metabolic disturbances. Patients may present with symptoms such as hypotonia, seizures, skin rashes, and alopecia. The condition is often diagnosed in infancy or early childhood, and it can be associated with elevated levels of organic acids in urine, particularly 3-hydroxyisovaleric acid and 3-hydroxypropionic acid. Early diagnosis and treatment with biotin supplementation can significantly improve outcomes and prevent complications. However, if left untreated, the condition can lead to severe neurological impairment and other serious health issues. Management typically involves dietary modifications and regular monitoring of metabolic parameters to ensure optimal health and development.
Detailed history of developmental milestones, clinical symptoms, and metabolic testing results.
Infants presenting with developmental delays, seizures, or skin rashes.
Ensure thorough documentation of dietary interventions and response to biotin supplementation.
Family history, genetic testing results, and metabolic evaluations.
Patients with a family history of metabolic disorders or unexplained neurological symptoms.
Document genetic counseling provided and any recommendations for family screening.
Used to confirm biotin deficiency in patients presenting with symptoms.
Document the clinical rationale for testing and results.
Ensure that the testing aligns with the clinical presentation and is supported by metabolic evaluations.
Common symptoms include developmental delays, neurological issues such as seizures, skin rashes, and alopecia. These symptoms can vary widely among patients.
