Glycogen Storage Disease Type V

National Organization for Rare Disorders, Inc.

Important
It is possible that the main title of the report Glycogen Storage Disease Type V is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • Glycogen Storage Disease Type V
  • Glycogenosis Type V
  • Myophosphorylase Deficiency
  • GSD V
  • Glycogen Storage Disease
  • McArdle Disease

Disorder Subdivisions

  • None

General Discussion

Glycogen storage disease type V (McArdle Disease or GSD-V) is one of several inherited glycogen storage diseases all of which are caused by failures of specific enzymes required for the storage of energy-supplying glycogen. In the case of GSD-V, symptoms are caused by the lack of the crucial enzyme muscle phosphorylase (myophosphorylase). This enzyme is needed for the breakdown of glycogen (the body's form of stored energy) into sugar (glucose) in muscle tissues. All of the glycogen storage diseases are characterized by the inability to break down glycogen, but in each case this occurs for a different reason. Unlike most of the other GSDs, type V has two autosomal recessive forms, a childhood-onset form and an adult-onset form. In addition, there is a much more rare autosomal dominant form of GSD-V. The clinical features of GSD-V are exercise intolerance, muscle cramping, and dark, burgundy-colored urine due to the presence of myoglobin (myoglobinuria).
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Resources

CLIMB (Children Living with Inherited Metabolic Diseases)
Climb Building
176 Nantwich Road
Crewe, Intl CW2 6BG
United Kingdom
Tel: +44 870 7700 325
Fax: +44 870 7700 327
Email: info.svcs@climb.org.uk
Internet: http://www.CLIMB.org.uk

Association for Glycogen Storage Disease
P.O. Box 896
Durant, IA 52747
USA
Tel: (563)785-6038
Fax: (563)785-6038
Email: maryc@agsdus.org
Internet: http://www.agsdus.org

Vaincre Les Maladies Lysosomales
2 ter avenue de Fance
Massy, 91300
France
Tel: 01 69 75 40 30
Fax: 01 60 11 15 83
Email: accueil@vml-asso.org
Internet: http://www.vml-asso.org

Muscular Dystrophy Association
3300 E. Sunrise Dr
Tucson, AZ 85718
USA
Tel: (520)529-2000
Fax: (520)529-5300
Tel: (800)572-1717
Email: mda@mdausa.org
Internet: http://www.mda.org/

NIH/National Digestive Diseases Information Clearinghouse
2 Information Way
Bethesda, MD 20892-3570
Tel: (301)654-3810
Fax: (301)907-8906
Tel: (800)891-5389
Email: nddic@info.niddk.nih.gov
Internet: http://www.niddk.nih.gov

Association for Glycogen Storage Disease (UK)
9 Lindop Road
Hale
Altricham
Cheshire, WA159DZ
United Kingdom
Tel: 1619807303
Fax: 1612263813
Email: president@agsd.org.uk
Internet: http://www.agsd.org.uk

Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
TDD: (888)205-3223
Email: ordr@od.nih.gov
Internet: http://rarediseases.info.nih.gov/Default.aspx

For a Complete Report

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

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