Glycogen Storage Disease Type VII [glykogenóza typu VII]

topical
Terms

deficit svalové fosfofruktokinázy
glykogen - nemoc z ukládání typ VII
glykogenóza VII
Taruiho nemoc

 

Deficiency, Muscle Phosphofructokinase
Glycogen Storage Disease VII
Glycogenosis 7
GSD VII
Muscle Phosphofructokinase Deficiency
Pfkm Deficiency
Tarui Disease
Tarui's Disease

Persistent link   https://www.medvik.cz/link/D006014
Definition

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.

Annotation
do not use /congen & do not coord with INFANT, NEWBORN, DISEASES
DUI
D006014 MeSH Browser
CUI
M0009475
Previous indexing
Glycogenosis (1966-1974)
History note
91(89); 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
Public note
91; was see under GLYCOGEN STORAGE DISEASE 1989-90; was GLYCOGENOSIS 7 see under GLYCOGENOSIS 1975-88

Allowable subheadings

BL
blood
CF
cerebrospinal fluid
CI
chemically induced
CL
classification
CO
complications
DI
diagnosis
DG
diagnostic imaging
DH
diet therapy
DT
drug therapy
EC
economics
EM
embryology
EN
enzymology
EP
epidemiology
EH
ethnology
ET
etiology
GE
genetics
HI
history
IM
immunology
ME
metabolism
MI
microbiology
MO
mortality
NU
nursing
PS
parasitology
PA
pathology
PP
physiopathology
PC
prevention & control
PX
psychology
RT
radiotherapy
RH
rehabilitation
SU
surgery
TH
therapy
UR
urine
VE
veterinary
VI
virology

C Diseases
C05 Musculoskeletal Diseases 1 125
C05.651 Muscular Diseases 557
C05.651.534 Muscular Disorders, Atrophic 45
C05.651.534.500 Muscular Dystrophies 141
C05.651.534.500.074 Distal Myopathies 3
C05.651.534.500.149 Glycogen Storage Disease Type VII
C05.651.534.500.280 Muscular Dystrophies, Limb-Girdle 22
C05.651.534.500.300 Muscular Dystrophy, Duchenne 136
C05.651.534.500.350 Muscular Dystrophy, Emery-Dreifuss 18
C05.651.534.500.400 Muscular Dystrophy, Facioscapulohumeral 19
C05.651.534.500.450 Muscular Dystrophy, Oculopharyngeal 3
C05.651.534.500.500 Myotonic Dystrophy 96
C10 Nervous System Diseases 1 884
C10.668 Neuromuscular Diseases 333
C10.668.491 Muscular Diseases 557
C10.668.491.175 Muscular Disorders, Atrophic 45
C10.668.491.175.500 Muscular Dystrophies 141
C10.668.491.175.500.074 Distal Myopathies 3
C10.668.491.175.500.112 Glycogen Storage Disease Type VII
C10.668.491.175.500.149 Muscular Dystrophies, Limb-Girdle 22
C10.668.491.175.500.300 Muscular Dystrophy, Duchenne 136
C10.668.491.175.500.350 Muscular Dystrophy, Emery-Dreifuss 18
C10.668.491.175.500.400 Muscular Dystrophy, Facioscapulohumeral 19
C10.668.491.175.500.450 Muscular Dystrophy, Oculopharyngeal 3
C10.668.491.175.500.500 Myotonic Dystrophy 96
C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities 439
C16.320 Genetic Diseases, Inborn 1 215
C16.320.565 Metabolism, Inborn Errors 714
C16.320.565.202 Carbohydrate Metabolism, Inborn Errors 36
C16.320.565.202.449 Glycogen Storage Disease 45
C16.320.565.202.449.448 Glycogen Storage Disease Type I 15
C16.320.565.202.449.500 Glycogen Storage Disease Type II 59
C16.320.565.202.449.510 Glycogen Storage Disease Type IIb 11
C16.320.565.202.449.520 Glycogen Storage Disease Type III 8
C16.320.565.202.449.540 Glycogen Storage Disease Type IV 1
C16.320.565.202.449.560 Glycogen Storage Disease Type V
C16.320.565.202.449.580 Glycogen Storage Disease Type VI
C16.320.565.202.449.600 Glycogen Storage Disease Type VII
C16.320.565.202.449.620 Glycogen Storage Disease Type VIII
C16.320.577 Muscular Dystrophies 141
C16.320.577.074 Distal Myopathies 3
C16.320.577.149 Glycogen Storage Disease Type VII
C16.320.577.280 Muscular Dystrophies, Limb-Girdle 22
C16.320.577.300 Muscular Dystrophy, Duchenne 136
C16.320.577.350 Muscular Dystrophy, Emery-Dreifuss 18
C16.320.577.400 Muscular Dystrophy, Facioscapulohumeral 19
C16.320.577.450 Muscular Dystrophy, Oculopharyngeal 3
C16.320.577.500 Myotonic Dystrophy 96
C16.320.577.750 Walker-Warburg Syndrome 4
C18 Nutritional and Metabolic Diseases 172
C18.452 Metabolic Diseases 1 200
C18.452.648 Metabolism, Inborn Errors 714
C18.452.648.202 Carbohydrate Metabolism, Inborn Errors 36
C18.452.648.202.449 Glycogen Storage Disease 45
C18.452.648.202.449.448 Glycogen Storage Disease Type I 15
C18.452.648.202.449.500 Glycogen Storage Disease Type II 59
C18.452.648.202.449.510 Glycogen Storage Disease Type IIb 11
C18.452.648.202.449.520 Glycogen Storage Disease Type III 8
C18.452.648.202.449.540 Glycogen Storage Disease Type IV 1
C18.452.648.202.449.560 Glycogen Storage Disease Type V
C18.452.648.202.449.580 Glycogen Storage Disease Type VI
C18.452.648.202.449.600 Glycogen Storage Disease Type VII
C18.452.648.202.449.620 Glycogen Storage Disease Type VIII

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