Other Newborn ScreeningNewborn ScreeningRUSP
Biotinidase Deficiency
Biotinidase deficiency impairs recycling of biotin, leading to dermatologic, neurologic, immunologic, and auditory problems if untreated. Oral biotin supplementation is highly effective when started early. Screening identifies partial and profound deficiencies so treatment begins before irreversible hearing or vision loss.
- Prevalence
- 1 in 60,000
- Inheritance
- Autosomal recessive
- Screened at Birth
- Yes
- On RUSP
- Yes (Recommended Uniform Screening Panel)
About This Data
This disorder is part of the Cureledger rare disease data corpus. We are building privacy-preserving natural history datasets and advocacy tools for rare disease communities. Data is maintained by clinical advisors and the patient community.