Biotin-dependent carboxylase deficiency, unspecified
ICD-10 D81.819 is a billable code used to indicate a diagnosis of biotin-dependent carboxylase deficiency, unspecified.
Biotin-dependent carboxylase deficiency is a rare inherited metabolic disorder characterized by a deficiency in one or more biotin-dependent carboxylases, which are essential enzymes involved in fatty acid synthesis, amino acid metabolism, and gluconeogenesis. This condition can lead to a variety of clinical manifestations, including neurological symptoms such as developmental delay, seizures, and hypotonia, as well as metabolic disturbances like lactic acidosis and hypoglycemia. The unspecified nature of this code indicates that the specific type of biotin-dependent carboxylase deficiency has not been determined, which can complicate diagnosis and treatment. Patients may present with symptoms that overlap with other metabolic disorders, making clinical evaluation and biochemical testing critical for accurate diagnosis. Early identification and management are crucial to prevent long-term complications, including cognitive impairment and other neurological deficits. Treatment typically involves biotin supplementation and dietary management to mitigate symptoms and improve metabolic function.
Detailed history of developmental milestones, neurological assessments, and metabolic evaluations.
Infants presenting with developmental delays, seizures, or metabolic crises.
Documentation should clearly outline the clinical rationale for testing and treatment plans.
Family history, genetic testing results, and metabolic screening outcomes.
Patients with a family history of metabolic disorders or unexplained neurological symptoms.
Genetic counseling documentation is essential for understanding inheritance patterns.
Used to confirm biotin deficiency in suspected cases.
Document the clinical rationale for testing and any prior treatments.
Pediatric specialists should ensure thorough metabolic evaluations.
Common symptoms include developmental delays, seizures, hypotonia, metabolic acidosis, and hypoglycemia. Symptoms can vary widely among patients.
