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Diseases

Genetic and Rare Diseases Information Center (GARD)

Glycogen storage disease type 7


Other Names for this Disease
  • Glycogen storage disease due to muscle phosphofructokinase deficiency
  • Glycogenosis due to muscle phosphofructokinase deficiency
  • Glycogenosis type 7
  • GSD due to muscle phosphofructokinase deficiency
  • GSD type 7
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Overview

Glycogen storage disease type 7 (GSD7) is an inherited condition in which the body is unable to break down glycogen (a complex sugar) in the muscle cells. Because glycogen is an important source of energy, this can interfere with the normal functioning of muscle cells. The severity of the condition and the associated signs and symptoms vary, but may include muscle weakness and stiffness; painful muscle cramps; nausea and vomiting; and/or myoglobinuria (the presence of myoglobin in the urine) following moderate to strenuous exercise. Symptoms typically resolve with rest. GSD7 is most commonly diagnosed during childhood; however, some affected people may rarely develop symptoms during infancy or later in adulthood. Those who develop the condition during infancy may experience additional symptoms such as hypotonia (poor muscle tone), cardiomyopathy and breathing difficulties that often lead to a shortened lifespan (less than 1 year).[1][2][3] This condition is caused by changes (mutations) in the PFKM gene and is inherited in an autosomal recessive manner.[1] There is no specific treatment for GSD7; however, affected people are generally advised to avoid vigorous exercise and high-carbohydrate meals.[2][3]
Last updated: 5/18/2015

References

  1. Glycogen storage disease type VII. Genetics Home Reference. April 2014; http://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-vii.
  2. Wayne E Anderson, DO, FAHS, FAAN. Type VII Glycogen Storage Disease. Medscape Reference. August 2014; http://emedicine.medscape.com/article/119947-overview.
  3. Lynne Ierardi-Curto, MD, PhD. Genetics of Glycogen-Storage Disease Type VII. Medscape Reference. October 2013; http://emedicine.medscape.com/article/949388-overview.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Glycogen storage disease type 7. This website is maintained by the National Library of Medicine.
  • 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

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
    Type VII Glycogen Storage Disease
    Genetics of Glycogen-Storage Disease Type VII
  • Online Mendelian Inheritance in Man (OMIM) is a 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 7. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Glycogen storage disease due to muscle phosphofructokinase deficiency
  • Glycogenosis due to muscle phosphofructokinase deficiency
  • Glycogenosis type 7
  • GSD due to muscle phosphofructokinase deficiency
  • GSD type 7
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.