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

GeneLocusProtein
GYS212p12.2-p11.2Glycogen [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.

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