Disorders

Glycogen Storage Disease Type 0, Liver

Synonym(s): GSD 0a, GSD0a, Hypoglycemia with Deficiency of Glycogen Synthetase in the Liver, Liver Glycogen Storage Disease 0, Liver Glycogen Synthase Deficiency

OMIM

Gene	Locus	Protein
GYS2	12p12.2-p11.2	Glycogen [starch] synthase, liver

Laboratory	Test Method	Prenatal	Carrier *
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
GeneDx - Gaithersburg, MD, USA
GSTS Pathology, DNA Laboratory - London, Great Britain
Medical Neurogenetics - Atlanta, GA, USA
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA	• Linkage analysis
Sheffield Children's NHS Foundation Trust, Sheffield Diagnostic Genetics Service - Sheffield, Great Britain
Universidad Autonoma de Madrid, Centro de Diagnostico de Enfermedades Moleculares - Madrid, Spain
University of Amsterdam Academic Medical Center, Laboratory Genetic Metabolic Diseases - Amsterdam, Netherlands

^* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.