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Case Reports in Genetics
Volume 2016, Article ID 8154910, 5 pages
Case Report

A Novel Nonsense Mutation of the AGL Gene in a Romanian Patient with Glycogen Storage Disease Type IIIa

1Department of Endocrinology and Metabolic Diseases, 1st Clinic of Internal Medicine, University of Mainz, Langenbeckstrasse 1, 55131 Mainz, Germany
2Institute for Clinical Chemistry and Laboratory Medicine, University of Mainz, Langenbeckstrasse 1, 55131 Mainz, Germany
3Center of Genetic Diseases, Emergency Children’s Hospital, University of Medicine and Pharmacy, Motilor Street 68, 400370 Cluj, Romania

Received 1 October 2015; Accepted 6 December 2015

Academic Editor: Shoji Ichikawa

Copyright © 2016 Anca Zimmermann et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Background. Glycogen storage disease type III (GSDIII) is a rare metabolic disorder with autosomal recessive inheritance, caused by deficiency of the glycogen debranching enzyme. There is a high phenotypic variability due to different mutations in the AGL gene. Methods and Results. We describe a 2.3-year-old boy from a nonconsanguineous Romanian family, who presented with severe hepatomegaly with fibrosis, mild muscle weakness, cardiomyopathy, ketotic fasting hypoglycemia, increased transaminases, creatine phosphokinase, and combined hyperlipoproteinemia. GSD type IIIa was suspected. Accordingly, genomic DNA of the index patient was analyzed by next generation sequencing of the AGL gene. For confirmation of the two mutations found, genetic analysis of the parents and grandparents was also performed. The patient was compound heterozygous for the novel mutation c.3235C>T, p.Gln107 (exon 24) and the known mutation c.1589C>G, p.Ser53 (exon 12). c.3235 >T, p.Gln107 was inherited from the father, who inherited it from his mother. c.1589C>G, p.Ser53 was inherited from the mother, who inherited it from her father. Conclusion. We report the first genetically confirmed case of a Romanian patient with GSDIIIa. We detected a compound heterozygous genotype with a novel mutation, in the context of a severe hepatopathy and an early onset of cardiomyopathy.