Article
Biotinidase deficiency: novel mutations and their biochemical and clinical correlates.
Human mutation - 1 Apr 2005
Wolf Barry, Jensen Kevin P, Barshop Bruce, Blitzer Miriam, Carlson Martha, Goudie David R, Gokcay Gulden Huner, Demirkol Mubeccel, Baykal Tolunay, Demir F, Quary Sharon, Shih Ling Yu, Pedro Helio F, Chen Tsui-Hua H, Slonim Alfred E
Abstract excerpt
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 novel mutations in children with the disorder. Two nonsense mutations, eight single missense mutations, three allelic...
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