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Biotinidase deficiency is an autosomal recessive metabolic disorder in which biotin is not released from proteins in the diet during digestion or from normal protein turnover in the cell. This situation results in biotin deficiency. Biotin, also called vitamin B7, 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 seizures. Biotin supplementation can alleviate and sometimes totally arrest such symptoms. ==Epidemiology== Based on the results of worldwide screening of biotinidase deficiency in 1991, the incidence of the disorder is: 5 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. 抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』 ■ウィキペディアで「Biotinidase deficiency」の詳細全文を読む スポンサード リンク
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