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

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

doi:10.1016/j.jpeds.2004.07.024

« Previous Next »The Journal of Pediatrics
Volume 145, Issue 5 , Pages 705-709, November 2004

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

Department of Medical Biology and Human Genetics, Innsbruck Medical University, and Departments of Pediatrics and Gastroenterology, University Hospital Innsbruck, Innsbruck; Institute of Pathology, Department of Pediatrics, Academic Teaching Hospital Feldkirch, Feldkirch, Austria; and Department of Pediatrics, University Hospital Freiburg, Germany.

Received 29 January 2004; received in revised form 8 June 2004; accepted 15 July 2004.

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.

DHPLC, Denaturing high performance liquid chromatography, GBE, Glycogen branching enzyme, GSD IV, Type IV glycogen storage disease, H&E, Hematoxylin & eosin (staining), PAS, Periodic acid–Schiff, PCR, Polymerase chain reaction