PPM - Management of Patients with Biotinidase Deficiency-Checklist

Checklist

Pdf Summary

This document outlines the management protocol for patients with biotinidase deficiency, updated as of August 2025. Key steps include:<br /><br />1. Comprehensive patient evaluation, starting with detailed medical and developmental history and a three-generation family history.<br />2. Review and documentation of newborn screening (NBS) results for biotinidase deficiency.<br />3. Physical examination focusing on growth measurements and skin/hair health (integumentary system).<br />4. For symptomatic patients during NBS follow-up, laboratory assessments such as glucose, electrolytes, blood gases, lactate, and ammonia are required, following established algorithms.<br />5. Confirm diagnosis through serum biotinidase enzyme activity measurement and molecular genetic testing.<br />6. Document the type of deficiency identified—either partial or profound.<br />7. Begin treatment immediately with free biotin (not protein-bound), monitoring dosage carefully.<br />8. For patients symptomatic after starting biotin, additional interventions include bicarbonate administration, hydration, and urine organic acid testing to check for treatment adherence.<br />9. Annual ophthalmology and audiology evaluations for those with profound deficiency, and biennial evaluations for those with partial deficiency, are recommended to monitor complications.<br />10. Provide genetic counseling to discuss recurrence risk and offer genetic testing to at-risk family members.<br />11. Educate patients and families on the necessity of lifelong biotin therapy for management.<br />12. Advise dietary precautions, specifically avoiding foods made with raw or undercooked egg whites and avoiding prolonged parenteral nutrition without biotin supplementation.<br /><br />This checklist ensures thorough clinical management and monitoring, supporting optimal long-term outcomes for individuals with biotinidase deficiency.

Keywords

biotinidase deficiency

patient management

newborn screening

biotin therapy

enzyme activity testing

genetic counseling

ophthalmology evaluation

audiology evaluation

dietary precautions

laboratory assessments