Glycogen Storage Disease Type II [glykogenóza typu II]
- Terms
-
deficit alfa-1,4-glukosidázy
deficit alfa-1,4-glukozidázy
deficit GAA
deficit kyselé maltázy
generalizovaná glykogenóza
glykogen - nemoc z ukládání typ II
glykogenóza II
glykogenóza typu II, adultní forma
glykogenóza typu II, infantilní forma
glykogenóza typu II, juvenilní forma
GSD II
GSD2
nemoc z nedostatku kyselé maltázy
Pompeho choroba
Pompeho nemoc
-
Acid Alpha-Glucosidase Deficiency
Acid Maltase Deficiency
Acid Maltase Deficiency Disease
Adult Glycogen Storage Disease Type II
Alpha-1,4-Glucosidase Deficiency
Deficiency Disease, Acid Maltase
Deficiency Disease, Lysosomal alpha-1,4-Glucosidase
Deficiency of Alpha-Glucosidase
GAA Deficiency
Generalized Glycogenosis
Glycogen Storage Disease II
Glycogen Storage Disease Type 2
Glycogen Storage Disease Type II, Adult
Glycogen Storage Disease Type II, Infantile
Glycogen Storage Disease Type II, Juvenile
Glycogenosis 2
Glycogenosis Type II
GSD II
GSD2
Infantile Glycogen Storage Disease Type II
Juvenile Glycogen Storage Disease Type II
Lysosomal alpha-1,4-Glucosidase Deficiency Disease
Pompe Disease
Pompe's Disease
An autosomal recessively inherited glycogen storage disease caused by GLUCAN 1,4-ALPHA-GLUCOSIDASE deficiency. Large amounts of GLYCOGEN accumulate in the LYSOSOMES of skeletal muscle (MUSCLE, SKELETAL); HEART; LIVER; SPINAL CORD; and BRAIN. Three forms have been described: infantile, childhood, and adult. The infantile form is fatal in infancy and presents with hypotonia and a hypertrophic cardiomyopathy (CARDIOMYOPATHY, HYPERTROPHIC). The childhood form usually presents in the second year of life with proximal weakness and respiratory symptoms. The adult form consists of a slowly progressive proximal myopathy. (From Muscle Nerve 1995;3:S61-9; Menkes, Textbook of Child Neurology, 5th ed, pp73-4)
- DUI
- D006009 MeSH Browser
- CUI
- M0009470
- Previous indexing
- Heart Diseases (1966-1974); Glucosidases/metabolism (1966-1974); Glycogenosis (1966-1974)
- History note
- 1989(1975); use GLYCOGENOSIS 1975-1988
- Public note
- 1989; see GLYCOGENOSIS 1975-88
Allowable subheadings
- BL
- blood 2
- CF
- cerebrospinal fluid
- CI
- chemically induced
- CL
- classification 11
- CO
- complications 5
- DI
- diagnosis 40
- DG
- diagnostic imaging
- DH
- diet therapy
- DT
- drug therapy 8
- EC
- economics
- EM
- embryology
- EN
- enzymology 2
- EP
- epidemiology 9
- EH
- ethnology
- ET
- etiology 13
- GE
- genetics 7
- HI
- history
- IM
- immunology
- ME
- metabolism 2
- MI
- microbiology
- MO
- mortality
- NU
- nursing
- PS
- parasitology
- PA
- pathology 9
- PP
- physiopathology 14
- PC
- prevention & control 1
- PX
- psychology
- RT
- radiotherapy
- RH
- rehabilitation
- SU
- surgery
- TH
- therapy 29
- UR
- urine
- VE
- veterinary
- VI
- virology
Cardiac form of generalized glycogenosis Disease MeSH Browser