title: Glycogen storage disease type 1a in three siblings with the G270V mutation.
abstract: Glycogen storage disease type 1a (von Gierke disease, GSD1a) is caused by the deficiency of microsomal glucose-6-phosphatase (G6Pase) activity. The cloning of G6Pase cDNA and characterization of the human G6Pase gene enabled the identification of the mutations causing GSD1a. Here we report on the clinical and biochemical features of three GSD1a siblings of a Muslin Arab family with a G270V mutation. Two older patients presented with an unusually mild clinical and biochemical course.
authors.affiliation: Genetic Institute, Soroka Medical Center, Beer Sheva, Israel. ruthi@bgumail.bgu.ac.il
authors.forename: R
authors.initials: R
authors.lastname: Parvari
authors.forename: J
authors.initials: J
authors.lastname: Isam
authors.forename: S W
authors.initials: SW
authors.lastname: Moses
mesh_terms: D002648:Child; D005091:Exons; D005260:Female; D005952:Glucose-6-Phosphatase / Q000235:genetics*; D005998:Glycine / Q000235:genetics; D005953:Glycogen Storage Disease Type I / Q000201:enzymology* / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D017354:Point Mutation; D014633:Valine / Q000235:genetics
chemical_list: D005952:Glucose-6-Phosphatase; D014633:Valine; D005998:Glycine