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...

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Veröffentlicht in:	The Journal of pediatrics 2004-11, Vol.145 (5), p.705-709
Hauptverfasser:	Janecke, Andreas R., Dertinger, Susanne, Ketelsen, Uwe-Peter, Bereuter, Lothar, Simma, Burkhard, Müller, Thomas, Vogel, Wolfgang, Offner, Felix A.
Format:	Artikel
Sprache:	eng
Schlagworte:	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
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Zusammenfassung:	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