title: A direct method for the diagnosis of human hepatic type 1b and type 1c glycogen-storage disease.
abstract: 1. Type 1b and type 1c glycogen-storage disease are caused respectively by deficiencies of the glucose-6-phosphate translocase and the phosphate/pyrophosphate translocase of the human hepatic microsomal glucose-6-phosphatase system. 2. Current methods of unequivocally diagnosing type 1b and type 1c glycogen storage disease are indirect and complex. 3. We have therefore developed a simple, rapid and direct microfiltration assay for the glucose-6-phosphate translocase and the phosphate/pyrophosphate translocase. 4. We have demonstrated that the microfiltration assay can be used to directly diagnose type 1b and 1c glycogen-storage disease in microsomes isolated from hepatic needle-biopsy samples.
authors.affiliation: Department of Medicine, Ninewells Hospital, Scotland, U.K.
authors.forename: I D
authors.initials: ID
authors.lastname: Waddell
authors.forename: R
authors.initials: R
authors.lastname: Hume
authors.forename: A
authors.initials: A
authors.lastname: Burchell
mesh_terms: D017920:Antiporters; D005952:Glucose-6-Phosphatase / Q000378:metabolism; D005953:Glycogen Storage Disease Type I / Q000175:diagnosis* / Q000201:enzymology; D006801:Humans; D008722:Methods; D008862:Microsomes, Liver / Q000201:enzymology; D009004:Monosaccharide Transport Proteins; D010770:Phosphotransferases / Q000378:metabolism; D011755:Pyrophosphatases / Q000378:metabolism
chemical_list: D017920:Antiporters; D009004:Monosaccharide Transport Proteins; C503531:SLC37A4 protein, human; C111261:glucose 6-phosphate(transporter); D010770:Phosphotransferases; D005952:Glucose-6-Phosphatase; D011755:Pyrophosphatases