Article
Biotinidase deficiency: novel mutations in Algerian patients.
Gene - 15 Feb 2014
Tiar A, Mekki A, Nagara M, Rhouma F Ben, Messaoud O, Halim N Ben, Kefi R, Hamlaoui M T, Lebied A, Abdelhak S
Abstract excerpt
Biotinidase deficiency is an autosomal recessive disorder of biotin metabolism leading to varying degrees of neurologic and cutaneous symptoms when untreated. In the present study, we report the clinical features and the molecular investigation of biotinidase deficiency in four unrelated consanguineous Algerian families including five patients with profound biotinidase deficiency and one child characterized as...
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