title: Unreliability of platelet glucose-6-phosphatase for the diagnosis of glycogen storage disease type Ia.
abstract: The diagnosis of glycogen storage disease type Ia currently uses enzyme analysis of liver tissue. This requires liver biopsy in the at-risk neonate or fetus. Conflicting reports have appeared in the literature on the use of peripheral platelet glucose-6-phosphatase activity for the diagnosis of this disorder. We have applied a sensitive radiometric assay system to the measurement of glucose-6-phosphatase activity in peripheral platelets. Two families with affected members were analysed, revealing no differences in glucose-6-phosphatase activity as compared with control values. Platelet measurement of glucose-6-phosphatase does not appear to be useful for the diagnosis of glycogen storage disease type Ia.
authors.affiliation: Department of Obstetrics, Gynecology and Reproductive Sciences, University of California, San Francisco 94143.
authors.forename: J D
authors.initials: JD
authors.lastname: Goldberg
authors.forename: S C
authors.initials: SC
authors.lastname: Treleaven
authors.forename: M
authors.initials: M
authors.lastname: Koresawa
authors.forename: T
authors.initials: T
authors.lastname: Simpson
authors.forename: M S
authors.initials: MS
authors.lastname: Golbus
mesh_terms: D001792:Blood Platelets / Q000201:enzymology*; D004796:Clinical Enzyme Tests; D005952:Glucose-6-Phosphatase / Q000097:blood*; D005953:Glycogen Storage Disease Type I / Q000097:blood / Q000175:diagnosis*; D006801:Humans; D006863:Hydrogen-Ion Concentration; D007700:Kinetics; D011506:Proteins / Q000032:analysis
chemical_list: D011506:Proteins; D005952:Glucose-6-Phosphatase