Molecular and clinical delineation of 12 patients with glycogen storage disease type III in Western Turkey
Makaleler > Tam Makale · 2015
Yazarlar: Minoru Okubo, Sema KALKAN UÇAR, Teodor Podskarbi, Toshio Murase, Yoon S. Shin, Mahmut ÇOKER
CLINICA CHIMICA ACTA, SCI Expanded İndekslerine Giren Dergi, Uluslararası, 2015, cilt 439, ss 162-167
DOI: 10.1016/j.cca.2014.10.016
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.