Molecular and clinical delineation of 12 patients with glycogen storage disease type III in Western Turkey


Okubo M., Ucar S. K. , Podskarbi T., Murase T., Shin Y. S. , ÇOKER M.

CLINICA CHIMICA ACTA, cilt.439, ss.162-167, 2015 (SCI İndekslerine Giren Dergi) identifier identifier identifier identifier

  • Cilt numarası: 439
  • Basım Tarihi: 2015
  • Doi Numarası: 10.1016/j.cca.2014.10.016
  • Dergi Adı: CLINICA CHIMICA ACTA
  • Sayfa Sayıları: ss.162-167

Özet

Background: Glycogen storage disease type III (GSD III; MIM #232400) is an autosomal recessive inherited disorder characterized by fasting hypoglycemia, growth retardation, hepatomegaly, progressive myopathy, and cardiomyopathy. GSD III is caused by deficiency in the glycogen debranching enzyme (gene symbol: AGL). Molecular analyses of AGL have indicated heterogeneity depending on ethnic groups. In Turkey we reported 13 different AGL mutations from GSD III patients in the Eastern region; however, the full spectrum of AGL mutations in Turkish population remains unclear. Here we investigated 12 GSD III patients mostly from Western Turkey.