About Biotinidase Deficiency
Biotinidase deficiency is a treatable inborn error of metabolism caused by mutations in the BTD gene, resulting in inability to recycle biotin (vitamin B7) from biotinylated enzymes. Without biotin recycling, multiple carboxylase enzymes become inactive, causing metabolic acidosis, seizures, hearing loss, and skin rash. Because it is included in newborn screening in many countries and responds completely to pharmacological biotin supplementation, most patients identified today remain asymptomatic.
Common Clinical Features
Clinical Trial Eligibility Tips
What to know before applying to Biotinidase Deficiency trials.
Biotinidase enzyme activity level classifies patients as profound (<10%) or partial (10-30%) deficiency — trials may specify activity threshold
Biotin supplementation (5-20 mg/day) is standard and typically resolves symptoms — trials focus on optimizing dose or understanding long-term outcomes
Newborn screening detection before symptoms gives the best prognosis — screening documentation supports natural history study eligibility
Late-diagnosed patients with hearing loss or vision impairment may qualify for observational studies on irreversible complications
Patient Resources
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