Phosphorylase b kinase deficiency glycogenosis with cirrhosis of the liver

J Pediatr. 1995 Oct;127(4):602-5. doi: 10.1016/s0022-3476(95)70123-0.

Abstract

We describe an Arab girl with complete absence of phosphorylase b kinase activity in the liver, symptomatic hypoglycemia, and persistently elevated serum aminotransferase values whose symptoms did not lessen with age; sequential liver biopsies showed progression to cirrhosis. Cirrhosis could not be ascribed to any other known cause. We conclude that type IX glycogenosis is not always associated with a benign outcome.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Consanguinity
  • Culture Techniques
  • Female
  • Glycogen Storage Disease / complications*
  • Glycogen Storage Disease / diagnosis
  • Humans
  • Liver / enzymology*
  • Liver / physiopathology
  • Liver Cirrhosis / complications*
  • Liver Cirrhosis / physiopathology
  • Liver Glycogen
  • Phosphorylase Kinase / deficiency*
  • Phosphorylase b / deficiency*

Substances

  • Liver Glycogen
  • Phosphorylase b
  • Phosphorylase Kinase