Biotinidase Deficiency

Biotinidase Deficiency (BIOT)

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

Inheritance and Frequency
The gene defect for biotinidase deficiency is unknowingly passed down from generation to generation. This faulty gene usually 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 free biotin, or biotin that is not bound to protein or other molecules. In patients diagnosed through screening, treatment will clear the skin rash and alopecia and improve the neurological status. It is necessary that treatment be managed by the doctor to be sure that the biotin is in the free form and in sufficient amounts.

History

Screening
Visit the What Does Your State Screen page to learn about your state's newborn screening program.

Supplemental Screening
If you live in a state that does not perform screening on its newborns for all detectable disorders, there are laboratories that will provide this screening for you no matter your state of residence. For more information about supplemental screening, visit our supplemental screening page. Also visit our frequently asked questions page for more information on newborn screening.

Other Sites of Reference

Support Groups

Biotinidase Family Support Group
Contact Person: Laurie Farmer

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Revised 01/07/2007