Related MeSH Hierarchy (5)
Diseases [C] » Nutritional and Metabolic Diseases [C18] » Metabolic Diseases » Metabolism, Inborn Errors » Carbohydrate Metabolism, Inborn Errors » Glycogen Storage Disease » Glycogen Storage Disease Type VII
Diseases [C] » Musculoskeletal Diseases [C05] » Muscular Diseases » Muscular Disorders, Atrophic » Muscular Dystrophies » Glycogen Storage Disease Type VII
Diseases [C] » Nervous System Diseases [C10] » Neuromuscular Diseases » Muscular Diseases » Muscular Disorders, Atrophic » Muscular Dystrophies » Glycogen Storage Disease Type VII
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Metabolism, Inborn Errors » Carbohydrate Metabolism, Inborn Errors » Glycogen Storage Disease » Glycogen Storage Disease Type VII
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Muscular Dystrophies » Glycogen Storage Disease Type VII
Description
An autosomal recessive glycogen storage disease in which there is deficient expression of 6-phosphofructose 1-kinase in muscle (PHOSPHOFRUCTOKINASE-1, MUSCLE TYPE) resulting in abnormal deposition of glycogen in muscle tissue. These patients have severe congenital muscular dystrophy and are exercise intolerant. MeSH
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Phase 2 Indicated Drugs (1)
Other Experimental Indicated Drugs (1)
Organization Involved with Phase 2 Indications (2)
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