Biotinidase DeficiencyHandan Yükselgüngör, Lale Ural, Metin Dönmez, Kutay IşıkGöztepe SSK Hospital, Children Clinic, Istanbul
Biotinidase 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
second month of life and diagnosed when she was 5 month sold. Keywords: Biotin, biotinidase deficiency
Biotinidaz EksikliğiHandan Yükselgüngör, Lale Ural, Metin Dönmez, Kutay IşıkGöztepe SSK Eğitim Hastanesi, Çocuk Kliniği, İstanbul
Anahtar Kelimeler: Biotin, biotinidaz eksikliği
Handan Yükselgüngör, Lale Ural, Metin Dönmez, Kutay Işık. Biotinidase Deficiency. Medeniyet Med J. 2001; 16(3): 179-181
Corresponding Author: Handan Yükselgüngör, Türkiye |
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