Article
Mutations in BTD causing biotinidase deficiency.
Human mutation - 1 Nov 2001
Hymes J, Stanley C M, Wolf B
Abstract excerpt
Biotinidase (BTD) is the only enzyme that can cleave biocytin, a product of the proteolytic digestion of holocarboxylases. Profound BTD deficiency (less than 10% mean normal activity in serum) is an autosomal recessive disorder that can result in neurological and cutaneous abnormalities. Both the cDNA and the genomic DNA of normal BTD gene have been isolated and characterized. The BTD gene is localized to...
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