Biotinidase deficiency: Novel mutations in Algerian patients
β Scribed by Tiar, A.; Mekki, A.; Nagara, M.; Rhouma, F. Ben; Messaoud, O.; Halim, N. Ben; Kefi, R.; Hamlaoui, M.T.; Lebied, A.; Abdelhak, S.
- Book ID
- 122730598
- Publisher
- Elsevier Science
- Year
- 2014
- Tongue
- English
- Weight
- 410 KB
- Volume
- 536
- Category
- Article
- ISSN
- 0378-1119
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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
Biotinidase deficiency is a defect in the recycling of the vitamin biotin. Biotin supplementation can markedly improve the neurological and cutaneous symptoms of affected children and prevent symptoms in children identified by newborn screening or treated since birth. We have determined thirteen nov