title: Genetic deficiencies of the glycogen phosphorylase system.
abstract: Several types of glycogen storage disease attributable to a deficiency of phosphorylase or phosphorylase kinase have been described. These diseases have been divided according to clinical symptoms, mode of inheritance, and affected tissue. However, this classification is questionable, as the clinical symptoms of these different diseases are similar, the mode of inheritance is often difficult to establish, and the biochemical assays are subject to several technical problems. A better classification would be based upon the identification of mutations in the respective disease genes. The molecular heterogeneity, however, is large, and at least 10 genes are involved. Mutations have been found in the muscle phosphorylase gene in patients with muscle phosphorylase deficiency, in the gene encoding the liver alpha subunit of phosphorylase kinase in patients with X-linked liver glycogenosis, and in the gene for the muscle alpha subunit of phosphorylase kinase in a patient with muscle phosphorylase kinase deficiency. We review here the different deficiencies of the phosphorylase system.
authors.affiliation: Department of Medical Genetics, University of Antwerp, Belgium.
authors.forename: J
authors.initials: J
authors.lastname: Hendrickx
authors.forename: P J
authors.initials: PJ
authors.lastname: Willems
mesh_terms: D005808:Genes, Recessive; D006008:Glycogen Storage Disease / Q000201:enzymology / Q000235:genetics*; D006801:Humans; D008099:Liver / Q000201:enzymology; D018482:Muscle, Skeletal / Q000201:enzymology; D010764:Phosphorylase Kinase / Q000172:deficiency; D006005:Phosphorylases / Q000145:classification / Q000172:deficiency* / Q000235:genetics*; D014960:X Chromosome
chemical_list: D006005:Phosphorylases; D010764:Phosphorylase Kinase