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Genetic and Rare Diseases Information Center (GARD)

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Glycogen storage disease type 5


Other Names for this Disease

  • GSD 5
  • McArdle disease
  • McArdle type glycogen storage disease
  • Muscle glycogen phosphorylase deficiency
  • Myophosphorylase deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Glycogen storage disease type 5 is a genetic disorder that prevents the body from breaking down glycogen. Glycogen is an important source of energy that is stored in muscle tissue. Signs and symptoms may include burgundy-colored urine, fatigue, exercise intolerance, muscle cramps, muscle pain, muscle stiffness, and muscle weakness. Symptoms tend to begin in early adulthood (20s-30s). It is caused by mutations in the PYGM gene and is inherited in an autosomal recessive fashion.[1]
Last updated: 4/15/2010

References

  1. McArdle syndrome. MedlinePlus. 2010; http://www.nlm.nih.gov/medlineplus/ency/article/000329.htm. Accessed 4/15/2010.
Your Questions Answered
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1 question(s) from the public on Glycogen storage disease type 5 have been answered. See questions and answers. You can also submit a new question.

Basic Information

  • The Association for Glycogen Storage Diseases (AGSD) Web site has an information page on glycogen storage disease type V. Click on the link above to view this information page. 
  • The Muscular Dystrophy Association's Web site has an information page on glycogen storage disease type 5. Click on the link above to view this information page.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The Merck Manuals Online Medical Library provides information on this condition for patients and caregivers. 
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • eMedicine has two articles on this topic from the perspective of Endocrinology and a Pediatric Metabolic Disease sub-specialty. You may need to register to view the information online, but registration is free. Click on the links above to view the articles from this medical reference Web site.
  • MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Glycogen storage disease type 5. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • GSD 5
  • McArdle disease
  • McArdle type glycogen storage disease
  • Muscle glycogen phosphorylase deficiency
  • Myophosphorylase deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.