Intermediate
Technical
IVT
biotinidase deficiency
Pronunciation: bye-oh-TIN-ih-days
An inherited disorder affecting biotin recycling, causing neurological symptoms if untreated but preventable with biotin supplementation.
Full Definition
Biotinidase deficiency is an autosomal recessive disorder that impairs the body's ability to recycle biotin, a B vitamin essential for several metabolic processes. Without treatment, affected infants develop seizures, hearing loss, developmental delays, and skin problems. The condition is easily treated with daily biotin supplements when detected early through newborn screening, making it a model success story for population screening programs.
In Context
- "Biotinidase deficiency screening showed enzyme activity below the 30% cutoff threshold." — Laboratory report
- "The family was counseled on lifelong biotin supplementation for biotinidase deficiency." — Genetic counseling note
Also known as
biotin recycling defect
Don't confuse with
holocarboxylase synthetase deficiency