Biotinidase deficiency: Report and three cases

Biotinidase deficiency is an inherited metabolic disorder characterized by inability to recycle protein-bound biotin. It shows autosomal ressesive trait with prevelance of about 1 in 60.000 live births. It has very different clinical screen that usually presented with seborrhoeic dermatitis, alopesia, ataxia, convulsion, hipotonia, growth retardation, hearing loss, chronic lactic acidosis, and the signs of immune deflciency. In this study, we reported three biotinidase deficiency cases with prominent neurologic symptoms. One of them was associated with edema which never reported before.

Özet

Biotinidaz eksikliği, proteine bağlanmış biotininin ayrılıp tekrar kullanılamaması ile karakterize kalıtsal bir hastalıktır. Otozomal resesif geçiş gösterir. Yaklaşık olarak 60.000 doğumda bir görülür. Çok farklı klinik tablolarla neden olabilen biotinidaz eksikliği genellikle seboreik dermatit, alopesi, ataksi, konvülsiyonlar, hipotoni, gelişme geriliği, işitme kaybı, kronik laktik asidoz ve immün yetmezlik bulguları ile karşımıza çıkar. Bu çalışmada nörolojik bulguların ön planda olduğu 3 biotinidaz enzim eksikliği olgusunu sunduk. Olgularımızın birinde daha önce biotinidaz eksikliği ile birlikte literatürde hiç bildirilmemiş olan ödem klinik bulgulara eşlik ediyordu.

Keywords

Ödem Biyotinidaz eksikliği Biyotinidaz Edema Biotinidase Deficiency Biotinidase

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Cite This Article

DOĞAN, M., BAY, A., YILMAZ, C., KÖSE, Y., AÇIKGÖZ, M., ÇAKSEN, H. (2005). Biotinidase deficiency: Report and three cases. Tıp Araştırmaları Dergisi, Cilt: 3 - Sayı: 3, 34–37. https://ajindex.com/articles/361699

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