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Case Reports
. 2013 Mar;108(3):198-200.
doi: 10.1016/j.ymgme.2013.01.003. Epub 2013 Jan 11.

Liver cirrhosis in glycogen storage disease Ib

Fabian Baertling  1 , Ertan Mayatepek, Patrick Gerner, Hideo A Baba, Julia Franzel, Andrea Schlune, Thomas Meissner
Affiliations
Case Reports

Liver cirrhosis in glycogen storage disease Ib

Fabian Baertling et al. Mol Genet Metab. 2013 Mar.

Abstract

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.

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