. 2001; 16(3): 179-181 | |||
Biotinidase DeficiencyHandan Yükselgüngör, Lale Ural, Metin Dönmez, Kutay IşıkGöztepe SSK Hospital, Children Clinic, IstanbulBiotinidase deficiency is an autosomal recessive disorder of biotin recycling. Children with profound biotinidase deficiency usually have neurological and cutaneous symptoms in early childhood, but they may not develop symptoms until adolescence. Here we report a 5 months old baby who became symptomathic with myochlonic convulsions that began in the Biotinidaz EksikliğiHandan Yükselgüngör, Lale Ural, Metin Dönmez, Kutay IşıkGöztepe SSK Eğitim Hastanesi, Çocuk Kliniği, İstanbulAnahtar Kelimeler: Biotin, biotinidaz eksikliği Handan Yükselgüngör, Lale Ural, Metin Dönmez, Kutay Işık. Biotinidase Deficiency. . 2001; 16(3): 179-181 Corresponding Author: Handan Yükselgüngör, Türkiye |
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