Article
Single center experience of biotinidase deficiency: 259 patients and six novel mutations.
Journal of pediatric endocrinology & metabolism : JPEM - 28 Aug 2018
Canda Ebru, Yazici Havva, Er Esra, Kose Melis, Basol Gunes, Onay Huseyin, Ucar Sema Kalkan, Habif Sara, Ozkinay Ferda, Coker Mahmut
Abstract excerpt
Background Biotinidase deficiency (BD) is an autosomal recessively inherited disorder of biotin recycling. It is classified into two levels based on the biotinidase enzyme activity: partial deficiency (10%-30% enzyme activity) and profound deficiency (0%-10% enzyme activity). The aims of this study were to evaluate our patients with BD, identify the spectrum of biotinidase (BTD) gene mutations in Turkish patients...
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