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Seventeen novel mutations that cause profound biotinidase deficiency

✍ Scribed by B Wolf; K Jensen; G Hüner; M Demirkol; T Baykal; P Divry; M.-O Rolland; C Perez-Cerdá; M Ugarte; R Straussberg; L Basel-Vanagaite; E.R Baumgartner; T Suormala; S Scholl; A.M Das; S Schweitzer; E Pronicka; J Sykut-Cegielska

Book ID
117735433
Publisher
Elsevier Science
Year
2002
Tongue
English
Weight
79 KB
Volume
77
Category
Article
ISSN
1096-7192

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Mutations in BTD causing biotinidase def
Mutations in BTD causing biotinidase deficiency
✍ Jeanne Hymes; Christine M. Stanley; Barry Wolf 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 289 KB

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