Glycogen storage disease type 7
Other Names for this Disease
- Muscle phosphofructokinase deficiency
- Tarui disease
- PFKM deficiency
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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). This condition is caused by changes (mutations) in the PFKM gene and is inherited in an autosomal recessive manner. There is no specific treatment for GSD7; however, affected people are generally advised to avoid vigorous exercise and high-carbohydrate meals.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
Last updated: 5/18/2015
- Glycogen storage disease type VII. Genetics Home Reference. April 2014; http://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-vii.
- Wayne E Anderson, DO, FAHS, FAAN. Type VII Glycogen Storage Disease. Medscape Reference. August 2014; http://emedicine.medscape.com/article/119947-overview.
- Lynne Ierardi-Curto, MD, PhD. Genetics of Glycogen-Storage Disease Type VII. Medscape Reference. October 2013; http://emedicine.medscape.com/article/949388-overview.
- Genetics Home Reference (GHR) contains information on Glycogen storage disease type 7. This website is maintained by the National Library of Medicine.
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Type VII Glycogen Storage Disease
Genetics of Glycogen-Storage Disease Type VII
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- 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.