Liver cirrhosis in glycogen storage disease Ib.
Glycogen storage disease Ib is an inborn error of carbohydrate metabolism leading to impaired glycogenolysis and gluconeogenesis. Cardinal symptoms include fasting hypoglycemia, lactic acidosis and hepatomegaly as well as neutropenia. We report for the first time on the development of liver cirrhosis in a nine-year-old boy in the course of glycogen storage disease Ib and discuss possible underlying pathomechanisms.
Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital Duesseldorf, Heinrich Heine University, Moorenstr. 5, D-40225 Duesseldorf, Germany. Fabian.Baertling@med.uni-duesseldorf.de
Fabian
F
Baertling
Ertan
E
Mayatepek
Patrick
P
Gerner
Hideo A
HA
Baba
Julia
J
Franzel
Andrea
A
Schlune
Thomas
T
Meissner
D002648:Child; D005953:Glycogen Storage Disease Type I / Q000150:complications / Q000378:metabolism / Q000473:pathology*; D006801:Humans; D008099:Liver / Q000378:metabolism / Q000473:pathology*; D008103:Liver Cirrhosis / Q000150:complications / Q000378:metabolism / Q000473:pathology*; D016031:Liver Transplantation; D008297:Male