Liver glycogenosis caused by a defective phosphorylase system: hemolysate analysis

Pediatrics. 1981 Jan;67(1):107-12.

Abstract

Investigated were 24 cases of glycogenosis caused by a reduction in liver phosphorylase activity. The intravenous glucagon tolerance test could not discriminate between phosphorylase kinase deficiency [glycogen storage disease (GSD) IX] and phosphorylase deficiency (GSD VI). These two subgroups were distinguished by hemolysate enzyme assays: (1) GSD IX was characterized by a residual phosphorylase kinase activity, a low activation curve for endogenous phosphorylase b and increased amylo-1,6-glucosidase activity. (2) GSD VI was characterized by a normal or increased phosphorylase kinase activity, a slight activation of endogenous phosphorylase b and a normal amylo-1,6-glucosidase activity.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child
  • Child, Preschool
  • Female
  • Glucagon
  • Glycogen Debranching Enzyme System / blood
  • Glycogen Storage Disease / enzymology
  • Glycogen Storage Disease / etiology*
  • Humans
  • Infant
  • Liver / enzymology*
  • Male
  • Phosphorylase Kinase / blood*
  • Phosphorylase Kinase / deficiency
  • Phosphorylase a / blood*
  • Phosphorylase a / metabolism
  • Phosphorylase b / blood*
  • Phosphorylase b / metabolism
  • Phosphorylases / blood*

Substances

  • Glycogen Debranching Enzyme System
  • Glucagon
  • Phosphorylase a
  • Phosphorylase b
  • Phosphorylases
  • Phosphorylase Kinase
  • amylo-1,6-glucosidase