Diseases & Conditions


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Glycogen Storage Disease Type V


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 #: 563-785-6038
      800 #: --
      e-mail: maryc@agsdus.org
      Home page: http://www.agsdus.org
    • Association for Glycogen Storage Disease (UK)
      9 Lindop Road
      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
      Crewe Intl CW2 6BG
      Phone #: +44- 87-0 7700 325
      800 #: --
      e-mail: info@climb.org.uk
      Home page: http://www.CLIMB.org.uk
    • Muscular Dystrophy Association
      3300 E. Sunrise Dr
      Tucson AZ 85718
      Phone #: 520-529-2000
      800 #: 800-344-4863
      e-mail: mda@mdausa.org
      Home page: http://www.mdausa.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 de Fance
      Massy None 91300
      Phone #: 01 -69 -75 40 30
      800 #: --
      e-mail: accueil@vml-asso.org
      Home page: http://www.vml-asso.org



    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