Mutation Analysis in Glycogen Storage Disease Type III Patients in the Netherlands: Novel Genotype-Phenotype Relationships and Five Novel Mutations in the AGL Gene.

@article{Sentner2013MutationAI,
  title={Mutation Analysis in Glycogen Storage Disease Type III Patients in the Netherlands: Novel Genotype-Phenotype Relationships and Five Novel Mutations in the AGL Gene.},
  author={Christiaan P. Sentner and Yvonne J. Vos and Klary N Niezen-Koning and Bart G J Mol and Gerrit P. A. Smit},
  journal={JIMD reports},
  year={2013},
  volume={7},
  pages={19-26}
}
Glycogen Storage Disease type III (GSD III) is an autosomal recessive disorder in which a mutation in the AGL gene causes deficiency of the glycogen debranching enzyme. In childhood, it is characterized by hepatomegaly, keto-hypoglycemic episodes after short periods of fasting, and hyperlipidemia. In adulthood, myopathy, cardiomyopathy, and liver cirrhosis… CONTINUE READING