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Biotinidase deficiency is a highly-treatable inherited disease in which the body cannot process the vitamin biotin due to a deficiency in a particular enzyme. If left untreated, the disease can cause numerous life-threatening complications. By taking daily supplements of biotin before symptoms occur, however, all symptoms of the disease can be avoided. With early detection and treatment, a person with biotinidase deficiency can live a completely normal life.
People who have less than 10% of the normal amount of the enzyme biotinidase are said to have profound biotinidase deficiency. Without treatment, their symptoms tend to be significant. People with biotinidase deficiency can experience seizures, poor muscle tone, difficulty with movement and balance, vision and/or hearing loss, skin rashes, breathing problems, fungal infections, and intellectual and/or developmental delays. These symptoms often begin after the first few weeks or months of life and can be life-threatening if untreated.
If symptoms have already appeared, treatment with biotin can reverse damage to the body already done by the disease. Vision loss, hearing loss, and developmental delay are irreversible.
People who have between 10 and 30% of the normal amounts of biotinidase have a milder form of the disease known as partial biotinidase deficiency. They may experience less severe symptoms, or may be asymptomatic until periods of illness or stress.
Profound biotinidase deficiency occurs in about 1 in 137,000 births. Studies report that the milder partial biotinidase deficiency occurs in about 1 in 110,000 people. Counsyl's internal data suggests that partial biotinidase deficiency is more common.
Biotinidase deficiency is treated with a biotin pill taken daily by mouth. A physician can determine the proper dosage and adjust that dosage over time if necessary. This treatment is lifelong and highly effective. Biotin is non-toxic, so it is recommended that people with partial biotinidase deficiency also take biotin supplements.
If treatment is begun after symptoms appear, some symptoms, such as skin problems and hair loss, will disappear. If the disease has already caused irreversible hearing or vision loss, low vision aids or hearing aids may be helpful. Learning specialists can assist with any irreversible developmental deficits.
With early diagnosis and treatment, people with biotinidase deficiency can live completely normal lives with no symptoms. Those in whom the disease is not detected early may experience permanent damage to their hearing, vision, or intellect. In cases where the disease is entirely unrecognized, it can be life-threatening.
An online support group for families affected by biotinidase deficiency, its site has stories about members living with the disease.
Explanations of an extensive number of genetic diseases written for everyday people by the U.S. government's National Institutes of Health.