title: Molecular genetics of type 1 glycogen storage disease.
abstract: Glycogen storage disease type 1 (GSD 1) comprises a group of autosomal recessive inherited metabolic disorders caused by deficiency of the microsomal multicomponent glucose-6-phosphatase system. Of the two known transmembrane proteins of the system, malfunction of the catalytic subunit (G6Pase) characterizes GSD 1a. GSD 1 non-a is characterized by defective microsomal glucose-6-phosphate or pyrophosphate/phosphate transport due to mutations in G6PT (glucose-6-phosphate translocase gene) encoding a microsomal transporter protein. Mutations in G6Pase and G6PT account for approximately 80 and approximately 20% of GSD 1 cases, respectively. G6Pase and G6PT work in concert to maintain glucose homeostasis in gluconeogenic organs. Whereas G6Pase is exclusively expressed in gluconeogenic cells, G6PT is ubiquitously expressed and its deficiency generally causes a more severe phenotype. Rapid confirmation of clinically suspected diagnosis of GSD 1, reliable carrier testing, and prenatal diagnosis are facilitated by mutation analyses of the chromosome 11-bound G6PT gene as well as the chromosome 17-bound G6Pase gene.
authors.affiliation: Institute of Medical Biology and Human Genetics, University of Innsbruck, Austria. Andreas.Janecke@uibk.ac.at
authors.forename: A R
authors.initials: AR
authors.lastname: Janecke
authors.forename: E
authors.initials: E
authors.lastname: Mayatepek
authors.forename: G
authors.initials: G
authors.lastname: Utermann
mesh_terms: D017920:Antiporters; D005952:Glucose-6-Phosphatase / Q000235:genetics*; D005953:Glycogen Storage Disease Type I / Q000201:enzymology / Q000235:genetics*; D006801:Humans; D009004:Monosaccharide Transport Proteins; D009154:Mutation; D010770:Phosphotransferases / Q000235:genetics*
chemical_list: D017920:Antiporters; D009004:Monosaccharide Transport Proteins; C503531:SLC37A4 protein, human; C111261:glucose 6-phosphate(transporter); D010770:Phosphotransferases; D005952:Glucose-6-Phosphatase