Phosphorylase b kinase deficiency glycogenosis with cirrhosis of the liver.
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.
Kagalwalla
A F
AF
Department of Pediatrics, King Fahad National Guard Hospital, Riyadh, Saudi Arabia.
Kagalwalla
Y A
YA
al Ajaji
S
S
Gorka
W
W
Ali
M A
MA
D002675:Child, Preschool; D003241:Consanguinity; D046508:Culture Techniques; D005260:Female; D006008:Glycogen Storage Disease / Q000150:complications* / Q000175:diagnosis; D006801:Humans; D008099:Liver / Q000201:enzymology* / Q000503:physiopathology; D008103:Liver Cirrhosis / Q000150:complications* / Q000503:physiopathology; D008112:Liver Glycogen; D010764:Phosphorylase Kinase / Q000172:deficiency*; D010763:Phosphorylase b / Q000172:deficiency*
D008112:Liver Glycogen; D010763:Phosphorylase b; D010764:Phosphorylase Kinase