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Copyright 1987, 1989, 1992, 1993, 1995, 2003
Synonyms of Glycogen Storage Disease Type V
- Glycogenosis Type V
- Glycogen Storage Disease
- Glycogen Storage Disease Type V
- GSD V
- McArdle Disease
- Myophosphorylase Deficiency
Disorder Subdivisions
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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Organizations related to Glycogen Storage Disease Type V
- Association for Glycogen Storage Disease
P.O. Box 896
Durant IA 52747
Phone #: 563-514-4022
800 #: --
e-mail: maryc@agsdus.org
Home page: http://www.agsdus.org
- Association for Glycogen Storage Disease (UK)
9 Lindop Road
Hale
Altricham
Cheshire None WA159DZ
Phone #: 161-980-7303
800 #: --
e-mail: president@agsd.org.uk
Home page: http://www.agsd.org.uk
- CLIMB (Children Living with Inherited Metabolic Diseases)
Climb Building
176 Nantwich Road
Crewe Intl CW2 6BG
Phone #: 084-5 2-41 2174
800 #: 080-0 6-52 3181
e-mail: info.svcs@climb.org.uk
Home page: http://www.CLIMB.org.uk
- Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg MD 20898-8126
Phone #: 301-251-4925
800 #: 888-205-2311
e-mail: http://rarediseases.info.nih.gov/GARD/EmailForm.aspx
Home page: http://rarediseases.info.nih.gov/GARD
- Muscular Dystrophy Association
3300 E. Sunrise Dr
Tucson AZ 85718
Phone #: 520-529-2000
800 #: 800-572-1717
e-mail: mda@mdausa.org
Home page: http://www.mda.org/
- NIH/National Digestive Diseases Information Clearinghouse
2 Information Way
Bethesda MD 20892-3570
Phone #: 301-654-3810
800 #: 800-891-5389
e-mail: nddic@info.niddk.nih.gov
Home page: http://www.niddk.nih.gov
- Vaincre Les Maladies Lysosomales
2 Ter Avenue
Massy None 91300
Phone #: 01 -69 -75 40 30
800 #: --
e-mail: accueil@vml-asso.org
Home page: http://www.vml-asso.org
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