title: Glycogen storage disease type IB: a new model of genetic disorders involving the transport system of intracellular membrane.
abstract: Our studies have revealed that the primary lesion of GSD type Ib exists in the G6P transport system in the microsomal membrane. Distinct evidence for the existence of a specific G6P transport system in microsomal membrane was obtained through these studies. This is the first example of a genetic disorder involving the transport system of an intracellular membrane. HHH syndrome (hyperornithinemia, hyperammonemia, and homocitrullinuria), in which the transport of ornithine to the mitochondria is presumed to be defective, may be another example belonging to this category of genetic disorders (18-20). A possibility exists that there are many other disorders due to defects in the membrane transport of intracellular organelles.
authors.forename: K
authors.initials: K
authors.lastname: Tada
authors.forename: K
authors.initials: K
authors.lastname: Narisawa
authors.forename: Y
authors.initials: Y
authors.lastname: Igarashi
authors.forename: S
authors.initials: S
authors.lastname: Kato
mesh_terms: D000328:Adult; D000818:Animals; D017920:Antiporters; D001693:Biological Transport, Active; D002648:Child; D003080:Cold Temperature; D005260:Female; D019298:Glucose-6-Phosphate; D005958:Glucosephosphates / Q000378:metabolism*; D005953:Glycogen Storage Disease Type I / Q000235:genetics / Q000503:physiopathology*; D006801:Humans; D007425:Intracellular Membranes / Q000378:metabolism*; D008099:Liver / Q000201:enzymology; D009004:Monosaccharide Transport Proteins; D010744:Phosphoric Monoester Hydrolases / Q000378:metabolism; D010770:Phosphotransferases / Q000378:metabolism; D051381:Rats; D013048:Specimen Handling
chemical_list: D017920:Antiporters; D005958:Glucosephosphates; D009004:Monosaccharide Transport Proteins; C503531:SLC37A4 protein, human; C503533:Slc37a4 protein, rat; C111261:glucose 6-phosphate(transporter); D019298:Glucose-6-Phosphate; D010770:Phosphotransferases; C023553:mannose-6-phosphatase; D010744:Phosphoric Monoester Hydrolases