biotinidase deficiency
Pronunciation: bye-oh-TIN-ih-days
An inherited metabolic disorder affecting biotin recycling, preventable through early detection and vitamin supplementation.
Full Definition
Biotinidase deficiency is an autosomal recessive disorder caused by mutations in the BTD gene, resulting in impaired ability to recycle biotin from dietary sources and endogenous proteins. Without treatment, affected individuals develop seizures, developmental delays, hearing loss, and skin manifestations. Newborn screening measures biotinidase enzyme activity in dried blood spots. Early identification allows for lifelong biotin supplementation, which completely prevents all clinical manifestations when started before symptom onset.
Usage
Usage note: Note the 'ase' ending indicating an enzyme. Always include 'deficiency' when referring to the condition.
In Context
- "Biotinidase deficiency screening prevents irreversible neurological damage through early biotin treatment." — Screening program evaluation
- "Patients with biotinidase deficiency require lifelong daily biotin supplementation." — Treatment guideline