title: Genetic evidence for the common identity of glucose-6-phosphatase, pyrophosphate-glucose phosphotransferase, carbamyl phosphate-glucose phosphotransferase and inorganic pyrophosphatase.
abstract: We demonstrate that glucose-6-phosphatase, pyrophosphate-glucose phosphotransferase, carbamyl phosphate-glucose phosphotransferase and inorganic pyrophosphatase activities are deficient in livers of patients with type I glycogen storage disease. This provides strong genetic evidence that these enzymatic activities reside in a single protein or share a common polypeptide chain.
mesh_terms: D002221:Carbamyl Phosphate / Q000378:metabolism; D011756:Diphosphates / Q000378:metabolism; D005947:Glucose / Q000378:metabolism; D005952:Glucose-6-Phosphatase / Q000378:metabolism*; D005953:Glycogen Storage Disease Type I / Q000378:metabolism; D006801:Humans; D008099:Liver / Q000201:enzymology; D010770:Phosphotransferases / Q000378:metabolism*; D011755:Pyrophosphatases / Q000378:metabolism*
chemical_list: D011756:Diphosphates; D002221:Carbamyl Phosphate; D010770:Phosphotransferases; D005952:Glucose-6-Phosphatase; D011755:Pyrophosphatases; D005947:Glucose