Biotidinaz eksikliği: Olgu Sunumu
Biotinidaz eksikliği biotin metabolizmasının bir bozukluğu olup nörolojik belirtiler, deri bulguları ve organik asidüri ile karakterizedir. Bu çalışmada koma tablosunda başvuran ciddi biotinidaz eksikliği olan dört aylık erkek bebek sunulmaktadır. Biotinidaz eksikliği hem idrar organik asit analizi hem de serum biotinidaz aktivitesi ölçümü ile doğrulanmıştır
Biotinidase deficiency: A case report
Biotinidase deficiency is a disorder of biotin metabolism and most symptomatic patients with biotinidase deficiency have both neurologic and cutaneous symptoms and typical organic aciduria. We report the case of a child with severe biotinidase deficiency presenting coma. Biotinidase deficiency was considered and was confirmed by both urine organic acid analysis and biotinidase activity measurement
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