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Biotinidase deficiency is an autosomal recessive metabolic disorder in which the body is not able to process the nutrient biotin properly.
Biotin, sometimes called vitamin H, is an important water-soluble nutrient that aids in the metabolism of fats, carbohydrates and proteins. Biotin Deficiency can result in behavioral disorders, lack of coordination, learning disabilities and seizure. Biotin supplementation can alleviate and sometimes totally arrest such symptoms.
Based on the results of worldwide screening of biotinidase deficiency in 1991, the incidence of the disorder is:
One in 137,401 for profound biotinidase deficiency
One in 109,921 for partial biotinidase deficiency
One in 61,067 for the combined incidence of profound and partial biotinidase deficiency
Carrier frequency in the general population is approximately one in 120.
Symptoms of a biotinidase deficiency can appear several days after birth. These include: seizures, hypotonia, ataxia, hearing loss, optic atrophy, skin rash and alopecia.
If left untreated, the disorder can eventually lead to coma and death.
It is recommended that raw eggs should be avoided in those affected by biotinidase deficiency, as eggs contain high levels of avidin. This binds to biotin making it unavailable for use elsewhere in the body.
Mutations in the BTD gene cause biotinidase deficiency. Biotinidase is the enzyme that is made by the BTD gene. Many mutations that cause the enzyme to be nonfunctional or to be made at extremely low levels have been identified. Biotin is a vitamin that is chemically bound to proteins. (Most vitamins are only loosely associated with proteins.) Without biotinidase activity, the vitamin biotin cannot be separated from foods and therefore cannot be used by the body. Another function of the biotinidase enzyme is to recycle biotin from enzymes that are important in metabolism (processing of substances in cells). When biotin is lacking, specific enzymes called carboxylases cannot process proteins, fats, or carbohydrates. Individuals lacking biotinidase activity can still have normal carboxylases if they ingest small amounts of biotin.
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