title: Biochemical diagnosis of hepatic glycogen storage diseases: 20 years French experience.
abstract: French experience of 242 cases of liver glycogenoses is reported. Screening tests based on serum biochemical data and glucagon tolerance tests are briefly reviewed. The diagnosis of types I glycogen storage disease (GSD) was ascertained in 73 patients' liver biopsies by measurement of glycogen content and by studying the glucose-6-phosphatase system. Liver biopsies were also required at the beginning for the diagnosis of other hepatic GSDs; later on, the possibilities of diagnosis using peripheral blood cells were investigated. Eighty-four cases of type III GSD were confirmed by measurement of debranching enzyme activity and glycogen content using either liver biopsies (78 cases) and/or erythrocytes (37 cases); enzyme determination was also performed in leukocytes and/or fibroblasts for 18 patients. Twenty-four cases of type VI GSD underwent liver biopsies, and the diagnosis could be confirmed using mononuclear or polymorphonuclear cells for 11 of these patients. Sixty-one patients were identified as type IX GSD; phosphorylase kinase deficiency was demonstrated in erythrocytes for all patients, and a liver biopsy was analyzed for 26 of these cases. From this experience, the possibilities of diagnosis of liver GSD using peripheral blood cells are emphasized.
authors.affiliation: Centre d'Etude des Maladies Métaboliques, Hôpital Debrousse, Lyon, France.
authors.forename: I
authors.initials: I
authors.lastname: Maire
authors.forename: C
authors.initials: C
authors.lastname: Baussan
authors.forename: N
authors.initials: N
authors.lastname: Moatti
authors.forename: M
authors.initials: M
authors.lastname: Mathieu
authors.forename: A
authors.initials: A
authors.lastname: Lemonnier
mesh_terms: D001774:Blood Chemical Analysis; D002478:Cells, Cultured; D002675:Child, Preschool; D005347:Fibroblasts / Q000378:metabolism; D005602:France; D005934:Glucagon / Q000378:metabolism; D005952:Glucose-6-Phosphatase / Q000378:metabolism; D006004:Glycogen Debranching Enzyme System / Q000378:metabolism; D006008:Glycogen Storage Disease / Q000097:blood / Q000175:diagnosis*; D006801:Humans; D007223:Infant; D007962:Leukocytes / Q000378:metabolism; D008099:Liver / Q000378:metabolism; D010764:Phosphorylase Kinase / Q000378:metabolism; D006005:Phosphorylases / Q000172:deficiency / Q000378:metabolism
chemical_list: D006004:Glycogen Debranching Enzyme System; D005934:Glucagon; D006005:Phosphorylases; D010764:Phosphorylase Kinase; D005952:Glucose-6-Phosphatase; C030563:amylo-1,6-glucosidase