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Glycogen Storage Disease Type VII MeSH Descriptor Data 2023


MeSH Heading
Glycogen Storage Disease Type VII
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
Unique ID
D006014
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D006014
Annotation
do not use /‌congen & do not coord with INFANT, NEWBORN, DISEASES
Scope Note
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.
Entry Version
GLYCOGEN STORAGE DIS VII
Entry Term(s)
Deficiency, Muscle Phosphofructokinase
GSD VII
Glycogen Storage Disease VII
Glycogenosis 7
Muscle Phosphofructokinase Deficiency
Pfkm Deficiency
Tarui Disease
Tarui's Disease
Previous Indexing
Glycogenosis (1966-1974)
Public MeSH Note
91; was see under GLYCOGEN STORAGE DISEASE 1989-90; was GLYCOGENOSIS 7 see under GLYCOGENOSIS 1975-88
Online Note
use GLYCOGEN STORAGE DISEASE TYPE VII to search GLYCOGENOSIS 7 1975-88
History Note
91(89); was see under GLYCOGEN STORAGE DISEASE 1989-90; was GLYCOGENOSIS 7 see under GLYCOGENOSIS 1975-88
Date Established
1991/01/01
Date of Entry
1974/12/12
Revision Date
2015/06/22
Glycogen Storage Disease Type VII Preferred
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