Communicated by Linda Tyfield 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 cutane
β¦ LIBER β¦
Mutational hotspot in the human biotinidase gene causes profound biotinidase deficiency
β Scribed by Pomponio, Robert J.; Reynolds, Thomas R.; Cole, Heath; Buck, Gregory A.; Wolf, Barry
- Book ID
- 109917933
- Publisher
- Nature Publishing Group
- Year
- 1995
- Tongue
- English
- Weight
- 454 KB
- Volume
- 11
- Category
- Article
- ISSN
- 1061-4036
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Biotinidase deficiency is inherited as an autosomal recessive trait that, unless treated with pharmacologic doses of biotin, can result in neurologic and cutaneous symptoms. We have identified two new mutations in exon D of the biotinidase gene of children with profound biotinidase deficiency ascert