Glycogen Storage Disease Type VII

Synonyms

• Tarui Disease
• GSD VII
• PFKM Deficiency
• Muscle Phosphofructokinase Deficiency

Disorder Subdivisions

• None

General Discussion

Glycogen storage diseases are a group of disorders in which stored glycogen cannot be metabolized into glucose to supply energy for the body. Glycogen storage disease type VII (GSD VII) is characterized by weakness, pain and stiffness during exercise. GSD VII is caused by abnormalities in the muscle phosphofructokinase gene that results in a deficiency of the phosphofructokinase enzyme. This enzyme deficiency leads to a reduced amount of energy available to muscles during exercise. GSD VII is inherited as an autosomal recessive genetic disorder.

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@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)344-4863

Email: mda@mdausa.org

Internet: 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

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

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:  7/23/2007

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