Glycogen Storage Disease Type VII
"Glycogen Storage Disease Type VII" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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.
| Descriptor ID |
D006014
|
| MeSH Number(s) |
C05.651.534.500.149 C16.320.565.202.449.600 C16.320.577.149 C18.452.648.202.449.600
|
| Concept/Terms |
Glycogen Storage Disease Type VII- Glycogen Storage Disease Type VII
- Glycogenosis 7
- Muscle Phosphofructokinase Deficiency
- Pfkm Deficiency
- Deficiencies, Pfkm
- Deficiency, Pfkm
- Pfkm Deficiencies
- Tarui's Disease
- Disease, Tarui's
- Taruis Disease
- GSD VII
- Glycogen Storage Disease VII
- Deficiency, Muscle Phosphofructokinase
- Deficiencies, Muscle Phosphofructokinase
- Muscle Phosphofructokinase Deficiencies
- Phosphofructokinase Deficiencies, Muscle
- Phosphofructokinase Deficiency, Muscle
- Tarui Disease
- Disease, Tarui
|
Below are MeSH descriptors whose meaning is more general than "Glycogen Storage Disease Type VII".
Below are MeSH descriptors whose meaning is more specific than "Glycogen Storage Disease Type VII".
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