Biotinidase deficiency

This code represents a rare, inherited metabolic disorder where the body cannot recycle the vitamin biotin. This deficiency leads to an inability to properly utilize biotin, which is essential for the function of several enzymes involved in metabolism. Untreated, it can cause neurological and dermatological symptoms.

Use this code for patients diagnosed with biotinidase deficiency, typically confirmed through newborn screening or subsequent diagnostic testing (e.g., enzyme activity assay). It is appropriate for both symptomatic and asymptomatic individuals identified with the condition. Documentation should clearly state the diagnosis of biotinidase deficiency.

• Ensure documentation specifies "biotinidase deficiency" and not a general biotin deficiency, which may have different underlying causes.
• Consider sequencing this code as a primary diagnosis when the patient is being treated or monitored specifically for this condition.
• Review for any associated neurological or dermatological manifestations that may require additional coding.