Phosphorylase b kinase deficiency glycogenosis with cirrhosis of the liver.

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.

• Authors: A F Kagalwalla, Y A Kagalwalla, S al Ajaji, W Gorka, M A Ali
• Journal: The Journal of pediatrics (J Pediatr) Vol. 127 Issue 4 Pg. 602-5 (Oct 1995) ISSN: 0022-3476 [Print] United States
• PMID: 7562285 (Publication Type: Case Reports, Journal Article)

Chemical References

• Liver Glycogen
• Phosphorylase b
• Phosphorylase Kinase

Topics

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