Biotinidase deficiency
Definition
Biotinidase deficiency is a rare inherited defect in the body's ability to use dietary biotin, one of the B vitamins. The disease is also known as juvenile or late-onset multiple carboxylase deficiency.
Description
Biotin is essential as a co-factor (co-enzyme) for the reactions of four enzymes called carboxylases. These enzymes, in turn, play important roles in the metabolism of sugars, fats, and proteins within the human body. Another key enzyme, biotinidase, recycles biotin from these reactions so it can be used again. A defect in the biotinidase gene results in decreased amounts of normal enzyme, thus preventing the reuse of biotin. In turn, this leads to a disruption of the function of the four...
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