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

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 denaturin...

Full description

Saved in:
Bibliographic Details
Published in:The Journal of pediatrics 2004-11, Vol.145 (5), p.705-709
Main Authors: Janecke, Andreas R., Dertinger, Susanne, Ketelsen, Uwe-Peter, Bereuter, Lothar, Simma, Burkhard, Müller, Thomas, Vogel, Wolfgang, Offner, Felix A.
Format: Article
Language:English
Subjects:
1,4-alpha-Glucan Branching Enzyme - genetics
Biological and medical sciences
Carbohydrates (enzymatic deficiencies). Glycogenosis
Errors of metabolism
Female
General aspects
Glycogen Storage Disease Type IV - complications
Glycogen Storage Disease Type IV - genetics
Glycogen Storage Disease Type IV - pathology
Humans
Infant, Newborn
Liver Diseases - etiology
Medical sciences
Metabolic diseases
Muscle, Skeletal - pathology
Muscle, Skeletal - ultrastructure
Mutation
Neuromuscular Diseases - etiology
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:0022-3476
1097-6833
DOI:10.1016/j.jpeds.2004.07.024