The BTD gene provides instructions for making an enzyme called biotinidase. This enzyme is involved in the metabolism of biotin, a B vitamin that is important for the normal functioning of the body's cells. Biotinidase helps to recycle biotin and make it available for use in the body.
Mutations in the BTD gene can cause a deficiency in biotinidase, leading to a condition called biotinidase deficiency. Biotinidase deficiency can be classified as either "partial" or "complete," depending on the amount of biotinidase activity present in the body. Complete biotinidase deficiency is a rare and serious condition that can cause a variety of symptoms, including skin rash, hair loss, and neurological problems. Partial biotinidase deficiency is less severe and may not cause any symptoms. Treatment for biotinidase deficiency typically involves supplements of biotin, which can help to prevent or improve symptoms.
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