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Newborn Metabolic Screening Program

Biotinidase (BD)

What is it?
Biotinidase Deficiency (BD) is caused by the lack of an enzyme called biotinidase. Without treatment, this disorder can lead to seizures, developmental delay, eczema, and hearing loss. Problems can be prevented with biotin treatment.

Inheritance and Frequency
The gene defect for biotinidase deficiency is unknowingly passed down from generation to generation. This faulty gene only emerges when two carriers have children together and pass it to their offspring. For each pregnancy of two such carriers, there is a 25% chance that the child will be born with the disease and a 50% chance the child will be a carrier for the gene defect. Studies show that 1 of every 60,000 live births will have biotinidase deficiency.

Signs & Symptoms
Infants with biotinidase deficiency appear normal at birth, but develop critical symptoms after the first weeks or months of life. Symptoms include hypotonia, ataxia, seizures, developmental delay, alopecia, seborrheic dermatitis, hearing loss and optic nerve atrophy. Metabolic acidosis can result in coma and death.

Long Term Effects
With early diagnosis and treatment, all symptoms can be prevented.

Treatment
Biotinidase deficiency is treated with daily biotin supplements, which clear the skin rash and alopecia and improve the neurological status in patients not diagnosed by screening.