Glycogen Storage Disease Type VII
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.
Year introduced: 1991(1989)
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Subheadings:
Tree Number(s): C05.651.534.500.149, C10.668.491.175.500.112, C16.320.565.202.449.600, C16.320.577.149, C18.452.648.202.449.600
MeSH Unique ID: D006014
Entry Terms:
- Deficiency, Muscle Phosphofructokinase
- Deficiencies, Muscle Phosphofructokinase
- Muscle Phosphofructokinase Deficiencies
- Phosphofructokinase Deficiencies, Muscle
- Phosphofructokinase Deficiency, Muscle
- Muscle Phosphofructokinase Deficiency
- Glycogen Storage Disease VII
- Tarui Disease
- Disease, Tarui
- Pfkm Deficiency
- Deficiencies, Pfkm
- Deficiency, Pfkm
- Pfkm Deficiencies
- GSD VII
- Glycogenosis 7
- Tarui's Disease
- Disease, Tarui's
- Taruis Disease
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