Glycogen Storage Disease Type VII
National Organization for Rare Disorders, Inc.
- Tarui Disease
- GSD VII
- PFKM Deficiency
- Muscle Phosphofructokinase Deficiency
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.
CLIMB (Children Living with Inherited Metabolic Diseases)
176 Nantwich Road
Crewe, CW2 6BG
Association for Glycogen Storage Disease
P.O. Box 896
Durant, IA 52747
Vaincre Les Maladies Lysosomales
2 Ter Avenue
Muscular Dystrophy Association
3300 East Sunrise Drive
Tucson, AZ 85718-3208
NIH/National Institute of Diabetes, Digestive & Kidney Diseases
Office of Communications & Public Liaison
Bldg 31, Rm 9A06
31 Center Drive, MSC 2560
Bethesda, MD 20892-2560
Association for Glycogen Storage Disease (UK) Ltd
Old Hambledon Racecourse
Sheardley Lane, Droxford
Hampshire, SO32 3QY
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
PO Box 241956
Los Angeles, CA 90024
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Last Updated: 7/23/2007
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