Türk Nöroşirürji Dergisi 1990 , Vol 1 , Num 4
Kıvılcım GÜCÜYENER, Haluk TOPALOĞLU, Kalbiye YALAZ, Melda ÇAĞLAR, Gülay NURLU
Hacettepe Üniversitesi Tıp Fakültesi Pediatrik Nöroloji Ünitesi, Ankara Carnitine is an essential cofactor in the transfer of long-chair fatty acids across the inner mitochondrial membrane. Classically a systemic and a myopathic from of carnitine deficiency are recognized. Myopathic form is manifested by proximal weakness, low muscle carnitine concentration, and lipid vacuoles in muscle biopsy. Systemic form is characterized by recurrent attacks of hepatic encephalopathy and low blood, muscle and hepatic carnitine concentrations. However some intermediate form are also defined. We present a 4 1/2 year old girl with muscle carnitine deficiency who responded well to medical therapy. Anahtar Kelimeler : Muscle carnitine deficiency-lipid myopathy-proximal muscle weakness