Biotinidase deficiency (BTD) is a treatable, metabolic disorder that is the result of a low concentration, or complete lack, of the enzyme, biotinidase. Biotinidase deficiency is an inherited disorder in which the body is not able to properly process the vitamin, biotin, which is sometimes referred to as Vitamin H. Biotin is an essential vitamin to the metabolic process and biotinidase, among its other functions, allows biotin to become available for use by the body. Mutations in the BTD gene cause biotinidase deficiency. The genetic traits associated with biotinidase deficiency are transmitted in an autosomal recessive manner.
Most infants with BTD show signs of lactic acid in the urine (aciduria), a widespread, red, skin rash (eczema), seizures, poor muscle tone (hypotonia), developmental delays, and hair loss (alopecia). Daily treatment with biotin supplements will clear up these symptoms.
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