Neonatal type IV glycogen storage disease associated with "null" mutations in glycogen branching enzyme 1

Andreas R Janecke; Susanne Dertinger; Uwe-Peter Ketelsen; Lothar Bereuter; Burkhard Simma; Thomas Müller; Wolfgang Vogel; Felix A Offner

doi:10.1016/j.jpeds.2004.07.024

Neonatal type IV glycogen storage disease associated with "null" mutations in glycogen branching enzyme 1

J Pediatr. 2004 Nov;145(5):705-9. doi: 10.1016/j.jpeds.2004.07.024.

Authors

Andreas R Janecke¹, Susanne Dertinger, Uwe-Peter Ketelsen, Lothar Bereuter, Burkhard Simma, Thomas Müller, Wolfgang Vogel, Felix A Offner

Affiliation

¹ Department of Medical Biology and Human Genetics, Innsbruck Medical University, Austria. Andreas.Janecke@uibk.ac.at

PMID: 15520786
DOI: 10.1016/j.jpeds.2004.07.024

Abstract

The fatal neonatal form of type IV glycogen storage disease (GSD IV) was diagnosed on light and electron microscopy and by analysis of GBE1 , the gene encoding glycogen branching enzyme. We report two novel truncating mutations, as well as the first genomic mutational analysis of GBE1 using denaturing high performance liquid chromatography.

Publication types

Case Reports

MeSH terms

1,4-alpha-Glucan Branching Enzyme / genetics*
Female
Glycogen Storage Disease Type IV / complications
Glycogen Storage Disease Type IV / genetics*
Glycogen Storage Disease Type IV / pathology*
Humans
Infant, Newborn
Liver Diseases / etiology
Muscle, Skeletal / pathology
Muscle, Skeletal / ultrastructure
Mutation*
Neuromuscular Diseases / etiology

Substances

1,4-alpha-Glucan Branching Enzyme