Glycogen Storage Disease Type V

Important
It is possible that the main title of the report Glycogen Storage Disease Type Vis not the name you expected.

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
info@climb.org.uk
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
maryc@agsdus.org
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
accueil@vml-asso.org
http://www.vml-asso.org

Muscular Dystrophy Association
3300 E. Sunrise Dr
Tucson
AZ
85718
USA
Tel: (520)529-2000
Fax: (520)529-5300
800: (800)344-4863
mda@mdausa.org
http://www.mdausa.org

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

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

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

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

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This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated: 5/27/2008
Copyright 1987, 1989, 1992, 1993, 1995, 2003 National Organization for Rare Disorders, Inc.

WebMD Medical Reference from the National Organization of Rare Disorders

Last Updated: May 27, 2008

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