title: Type-1c glycogen storage disease is not caused by mutations in the glucose-6-phosphate transporter gene.
abstract: Glycogen storage disease type 1 (GSD-1) is a group of autosomal recessive disorders caused by deficiencies in glucose-6-phosphatase (G6Pase) and the associated substrate/product transporters. Molecular genetic studies have demonstrated that GSD-1a and GSD-1b are caused by mutations in the G6Pase enzyme and a glucose-6-phosphate transporter (G6PT), respectively. While kinetic studies of G6Pase catalysis predict that the index GSD-1c patient is deficient in a pyrophosphate/phosphate transporter, the existence of a separate locus for GSD-1c remains unclear. We have previously shown that the G6Pase gene of the index GSD-1c patient is intact; we now show that the G6PT gene of this patient is normal, strongly suggesting the existence of a distinct GSD-1c locus.
authors.affiliation: Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA.
authors.forename: B
authors.initials: B
authors.lastname: Lin
authors.forename: H
authors.initials: H
authors.lastname: Hiraiwa
authors.forename: C J
authors.initials: CJ
authors.lastname: Pan
authors.forename: R C
authors.initials: RC
authors.lastname: Nordlie
authors.forename: J Y
authors.initials: JY
authors.lastname: Chou
mesh_terms: D017920:Antiporters / Q000235:genetics*; D004252:DNA Mutational Analysis; D005952:Glucose-6-Phosphatase / Q000235:genetics; D005953:Glycogen Storage Disease Type I / Q000235:genetics* / Q000378:metabolism*; D006801:Humans; D007700:Kinetics; D009004:Monosaccharide Transport Proteins / Q000235:genetics*; D009154:Mutation; D018807:Polymorphism, Single-Stranded Conformational; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism
chemical_list: D017920:Antiporters; D009004:Monosaccharide Transport Proteins; D012333:RNA, Messenger; C503531:SLC37A4 protein, human; C111261:glucose 6-phosphate(transporter); D005952:Glucose-6-Phosphatase