What is Biotinidase Deficiency?
Biotinidase Deficiency is caused by the lack of an enzyme called biotinidase. This disorder can lead to seizures, developmental delay, eczema, and hearing loss. Problems can be prevented with biotin treatment.
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. 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. With early diagnosis and treatment, all symptoms can be prevented.
Detection of the deficiency through the NBS does not depend on protein or lactose ingestion and therefore it should be identified on the first specimen unless the infant has been transfused. The enzyme is prone to damage if the sample is delayed in the mail or exposed to high temperatures. THE NBS is accurate for detection of biotinidase deficiency immediately at birth.
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.
Thirty states currently have a newborn screening program that tests for biotinidase deficiency. The NBS tests for other metabolic disorders as well. The other disorders that are screened for vary from state to state. See linked table for a state-by-state listing of disorders screened for in each state. For more information about newborn screening for biotinidase deficiency, please visit our Newborn Screening for Biotinidase Deficiency page.
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treatment that your doctor may recommend based on individual facts and
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