glycogen storage disease I

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Disease Overview

Glycogenosis due to glucose-6-phosphatase (G6P) deficiency or glycogen storage disease, (GSD), type 1, is a group of inherited metabolic diseases, including types a and b, and characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver.


Synonyms

  • G6P deficiency
  • GSD due to G6P deficiency
  • GSD type 1
  • GSD type I
  • GSD1
  • Glycogen Storage Disease Type I
  • deficiency of glucose-6-phosphatase
  • glycogen storage disease I
  • glycogen storage disease due to G6P deficiency
  • glycogen storage disease due to glucose-6-phosphatase deficiency
  • glycogen storage disease type 1
  • glycogen storage disease type I
  • glycogen storage disease, type I
  • glycogenosis type 1
  • glycogenosis type I
  • hepatorenal glycogenosis
  • von Gierke disease
  • von Gierke's disease

GARD Disease Summary

The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH).

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Orphanet

Orphanet has a summary about this condition that may include information on the diagnosis, care, and treatment as well as other resources. Some of the information and resources are available in languages other than English. The summary may include medical terms, so we encourage you to share and discuss this information with your doctor. Orphanet is the French National Institute for Health and Medical Research and the Health Programme of the European Union.

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National Organization for Rare Disorders