Liver cirrhosis in glycogen storage disease Ib

Fabian Baertling; Ertan Mayatepek; Patrick Gerner; Hideo A Baba; Julia Franzel; Andrea Schlune; Thomas Meissner

doi:10.1016/j.ymgme.2013.01.003

Liver cirrhosis in glycogen storage disease Ib

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

Authors

Fabian Baertling¹, Ertan Mayatepek, Patrick Gerner, Hideo A Baba, Julia Franzel, Andrea Schlune, Thomas Meissner

Affiliation

¹ 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

PMID: 23357201
DOI: 10.1016/j.ymgme.2013.01.003

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.

Publication types

Case Reports

MeSH terms

Child
Glycogen Storage Disease Type I / complications
Glycogen Storage Disease Type I / metabolism
Glycogen Storage Disease Type I / pathology*
Humans
Liver / metabolism
Liver / pathology*
Liver Cirrhosis / complications
Liver Cirrhosis / metabolism
Liver Cirrhosis / pathology*
Liver Transplantation
Male

Supplementary concepts

Glycogen Storage Disease IB