Biotinidase Deficiency

An inherited metabolic disorder in which the body cannot efficiently recycle biotin because of deficient biotinidase enzyme activity.
Untreated infants or children may develop seizures, developmental problems, hypotonia, skin rash, alopecia, hearing loss or visual problems.
Newborn screening and measurement of biotinidase activity can identify the disorder before irreversible complications develop.
Oral pharmacologic-dose biotin is highly effective and is generally continued lifelong after confirmed diagnosis.
Early detection is especially valuable because timely supplementation can prevent many neurologic and systemic manifestations.