PPM - Management of Patients with Biotinidase Deficiency-Description and References

Description and References

Pdf Summary

This guidance document, updated August 2025, is intended for healthcare providers managing patients with biotinidase deficiency, an autosomal recessive metabolic disorder caused by pathogenic variants in the BTD gene. The condition is confirmed following abnormal newborn screening by measuring serum biotinidase enzyme activity and molecular genetic testing if activity is decreased. Biotinidase deficiency is classified as profound (enzyme activity <10% of normal) or partial (10-30% of normal activity). <br /><br />Symptoms of untreated profound deficiency may include seizures, alopecia, skin rashes, hearing loss, and optic atrophy. Early treatment with 5-10 mg daily biotin supplementation can reverse seizures, alopecia, and rash, though vision and hearing impairments are typically irreversible. Individuals with partial deficiency often remain asymptomatic unless stressed but also benefit from daily biotin therapy (2.5-10 mg). Lifelong biotin supplementation is required to prevent symptoms and complications.<br /><br />Providers should evaluate documentation carefully, apply appropriate treatment protocols, and monitor patients regularly to ensure effective management. This includes confirmation of the diagnosis, initiation and adherence to biotin therapy, and ongoing clinical and biochemical follow-up.<br /><br />Key resources for management include a newborn screening algorithm and authoritative reviews from GeneReviews and recent literature summarizing four decades of clinical experience with biotinidase deficiency. This information supports providers in diagnosis, treatment, and long-term care to optimize patient outcomes.<br /><br />In summary, biotinidase deficiency requires lifelong recognition and treatment with biotin to prevent or mitigate neurological and dermatological symptoms, underscoring the importance of early diagnosis and sustained management.

Keywords

biotinidase deficiency

BTD gene

autosomal recessive disorder

newborn screening

biotinidase enzyme activity

profound deficiency

partial deficiency

biotin supplementation

neurological symptoms

long-term management