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9. BTD Gene Mutation

A mutation of the BTD gene, which provides instructions for the creation of biotinidase enzymes, prevents the body from breaking down proteins and creating free biotin. Free biotin activates another set of enzymes called carboxylases that aid metabolism. Biotinidase deficiency presents within a few months of birth or during childhood. To diagnose it, specialists can conduct newborn screening and genetic tests.

BTD gene carboxylases Christoph Burgstedt / Getty Images

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