Biotinidase deficiency
ICD-10 D81.810 is a billable code used to indicate a diagnosis of biotinidase deficiency.
Biotinidase deficiency is a rare autosomal recessive disorder characterized by a deficiency of the enzyme biotinidase, which is essential for the recycling of biotin, a B-vitamin crucial for various metabolic processes. This deficiency leads to impaired utilization of biotin, resulting in a range of clinical manifestations. Patients may present with neurological symptoms such as seizures, developmental delay, and hypotonia, as well as skin rashes, alopecia, and conjunctivitis. The hematologic implications include potential anemia and immune dysfunction due to the role of biotin in cellular metabolism and immune response. Early diagnosis through newborn screening and prompt treatment with biotin supplementation can significantly improve outcomes and prevent severe complications. The condition is often diagnosed in infancy, and lifelong management is typically required to maintain normal biotin levels and prevent the recurrence of symptoms. Biotinidase deficiency is part of a broader category of organic acidemias and metabolic disorders, necessitating a multidisciplinary approach for optimal patient care.
Detailed history of developmental milestones, neurological assessments, and laboratory results.
Infants presenting with seizures or developmental delays.
Documentation should emphasize the importance of early diagnosis and treatment response.
Genetic testing results, family history, and metabolic assessments.
Patients with a family history of metabolic disorders or unexplained neurological symptoms.
Genetic counseling documentation is crucial for understanding inheritance patterns.
Used to confirm diagnosis in suspected cases of biotinidase deficiency.
Lab results must be documented in the patient's medical record.
Pediatric specialists should ensure that testing is performed in accredited laboratories.
Common symptoms include seizures, developmental delays, skin rashes, alopecia, and immune dysfunction. Symptoms can vary widely among individuals.
