Single center experience of biotinidase deficiency: 259 patients and six novel mutations
Makaleler > Tam Makale · 2018
Yazarlar: Ebru CANDA, Havva YAZICI, Esra Er, Melis Kose, Güneş AK, Huseyin Onay, Sema KALKAN UÇAR, Sara HABİF, Feriştah Ferda ÖZKINAY, Mahmut ÇOKER
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, SCI Expanded İndekslerine Giren Dergi, Uluslararası, 2018, cilt 31, ss 917-926
Özet
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 and to determine the clinical and laboratory findings of our patients and their follow-up period.