Gangliosidosis, GM1 [gangliosidóza GM1]

topical
3
Terms

deficit beta-galaktosidázy
gangliosidóza GM1 u dospělých
gangliosidóza GM1, dospělá forma
gangliosidóza GM1, dospělý typ
gangliosidóza GM1, infantilní forma
gangliosidóza GM1, infantilní typ
gangliosidóza GM1, juvenilní forma
gangliosidóza GM1, juvenilní typ
generalizovaná gangliosidóza GM1, typ 1
generalizovaná gangliosidóza GM1, typ 2
generalizovaná gangliosidóza GM1, typ 3
generalizovaná gangliosidóza GM1, typ I
generalizovaná gangliosidóza GM1, typ II
generalizovaná gangliosidóza GM1, typ III
GM1 gangliosidóza
monosialogangliosidóza
nedostatek beta-galaktosidázy

 

Adult GM1 Gangliosidosis
beta Galactosidase 1 Deficiency
beta Galactosidase Deficiency
beta-Galactosidase Deficiency
Beta-Galactosidase-1 (GLB1) Deficiency
beta-Galactosidase-1 Deficiency
Beta-Galactosidase-1 Deficiency Disease
Beta-Galactosidosis
G(M1) Gangliosidosis
Gangliosidosis G(M1)
Gangliosidosis Generalized GM1, Type 1
Gangliosidosis GM1
Gangliosidosis GM1 Type 3
Gangliosidosis GM1, Adult
Gangliosidosis GM1, Infantile
Gangliosidosis GM1, Juvenile
Gangliosidosis GM1, Type 1
Gangliosidosis GM1, Type 2
Gangliosidosis GM1, Type 3
Gangliosidosis, Generalized GM1 Type 2
Gangliosidosis, Generalized GM1, Adult Type
Gangliosidosis, Generalized GM1, Chronic Type
Gangliosidosis, Generalized GM1, Infantile Form
Gangliosidosis, Generalized GM1, Juvenile Type
Gangliosidosis, Generalized GM1, Type 1
Gangliosidosis, Generalized GM1, Type 2
Gangliosidosis, Generalized GM1, Type 3
Gangliosidosis, Generalized GM1, Type I
Gangliosidosis, Generalized GM1, Type II
Gangliosidosis, Generalized GM1, Type III
Generalized Gangliosidosis
GLB1 Deficiency
GM1 Gangliosidosis
GM1-Gangliosidosis, Type I
GM1-Gangliosidosis, Type II
GM1-Gangliosidosis, Type III
Type 3 (Adult) GM1 Gangliosidosis

Persistent link   https://www.medvik.cz/link/D016537
Definition

An autosomal recessive neurodegenerative disorder caused by the absence or deficiency of BETA-GALACTOSIDASE. It is characterized by intralysosomal accumulation of G(M1) GANGLIOSIDE and oligosaccharides, primarily in neurons of the central nervous system. The infantile form is characterized by MUSCLE HYPOTONIA, poor psychomotor development, HIRSUTISM, hepatosplenomegaly, and facial abnormalities. The juvenile form features HYPERACUSIS; SEIZURES; and psychomotor retardation. The adult form features progressive DEMENTIA; ATAXIA; and MUSCLE SPASTICITY. (From Menkes, Textbook of Child Neurology, 5th ed, pp96-7)

DUI
D016537 MeSH Browser
CUI
M0025239
Previous indexing
Lipoidosis (1966-1975); Gangliosidoses (1976-1991); Metabolism, Inborn Errors (1966-1975)
History note
2007(1992)
Public note
2007; see GANGIOSIDOSIS GM1 2000-2006, see GANGLIOSIDOSIS G(M1) 1992-1999

Allowable subheadings

BL
blood
CF
cerebrospinal fluid
CI
chemically induced
CL
classification
CO
complications
DI
diagnosis 2
DG
diagnostic imaging
DH
diet therapy
DT
drug therapy
EC
economics
EM
embryology
EN
enzymology
EP
epidemiology
EH
ethnology
ET
etiology
GE
genetics 2
HI
history
IM
immunology
ME
metabolism
MI
microbiology
MO
mortality
NU
nursing
PS
parasitology
PA
pathology
PP
physiopathology 2
PC
prevention & control
PX
psychology
RT
radiotherapy
RH
rehabilitation
SU
surgery
TH
therapy
UR
urine
VE
veterinary
VI
virology

C Diseases
C10 Nervous System Diseases 1 884
C10.228 Central Nervous System Diseases 810
C10.228.140 Brain Diseases 1 183
C10.228.140.163 Brain Diseases, Metabolic 85
C10.228.140.163.100 Brain Diseases, Metabolic, Inborn 28
C10.228.140.163.100.435 Lysosomal Storage Diseases, Nervous System 14
C10.228.140.163.100.435.825 Sphingolipidoses 12
C10.228.140.163.100.435.825.300 Gangliosidoses 11
C10.228.140.163.100.435.825.300.300 Gangliosidoses, GM2 2
C10.228.140.163.100.435.825.300.400 Gangliosidosis, GM1 3
C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities 439
C16.320 Genetic Diseases, Inborn 1 215
C16.320.565 Metabolism, Inborn Errors 714
C16.320.565.189 Brain Diseases, Metabolic, Inborn 28
C16.320.565.189.435 Lysosomal Storage Diseases, Nervous System 14
C16.320.565.189.435.825 Sphingolipidoses 12
C16.320.565.189.435.825.300 Gangliosidoses 11
C16.320.565.189.435.825.300.300 Gangliosidoses, GM2 2
C16.320.565.189.435.825.300.400 Gangliosidosis, GM1 3
C16.320.565.398 Lipid Metabolism, Inborn Errors 154
C16.320.565.398.641 Lipidoses 35
C16.320.565.398.641.803 Sphingolipidoses 12
C16.320.565.398.641.803.350 Gangliosidoses 11
C16.320.565.398.641.803.350.300 Gangliosidoses, GM2 2
C16.320.565.398.641.803.350.360 Gangliosidosis, GM1 3
C16.320.565.595 Lysosomal Storage Diseases 73
C16.320.565.595.554 Lysosomal Storage Diseases, Nervous System 14
C16.320.565.595.554.825 Sphingolipidoses 12
C16.320.565.595.554.825.300 Gangliosidoses 11
C16.320.565.595.554.825.300.300 Gangliosidoses, GM2 2
C16.320.565.595.554.825.300.400 Gangliosidosis, GM1 3
C18 Nutritional and Metabolic Diseases 172
C18.452 Metabolic Diseases 1 200
C18.452.132 Brain Diseases, Metabolic 85
C18.452.132.100 Brain Diseases, Metabolic, Inborn 28
C18.452.132.100.435 Lysosomal Storage Diseases, Nervous System 14
C18.452.132.100.435.825 Sphingolipidoses 12
C18.452.132.100.435.825.300 Gangliosidoses 11
C18.452.132.100.435.825.300.300 Gangliosidoses, GM2 2
C18.452.132.100.435.825.300.400 Gangliosidosis, GM1 3
C18.452.584 Lipid Metabolism Disorders 99
C18.452.584.563 Lipid Metabolism, Inborn Errors 154
C18.452.584.563.641 Lipidoses 35
C18.452.584.563.641.803 Sphingolipidoses 12
C18.452.584.563.641.803.350 Gangliosidoses 11
C18.452.584.563.641.803.350.300 Gangliosidoses, GM2 2
C18.452.584.563.641.803.350.360 Gangliosidosis, GM1 3
C18.452.648 Metabolism, Inborn Errors 714
C18.452.648.189 Brain Diseases, Metabolic, Inborn 28
C18.452.648.189.435 Lysosomal Storage Diseases, Nervous System 14
C18.452.648.189.435.825 Sphingolipidoses 12
C18.452.648.189.435.825.300 Gangliosidoses 11
C18.452.648.189.435.825.300.300 Gangliosidoses, GM2 2
C18.452.648.189.435.825.300.400 Gangliosidosis, GM1 3
C18.452.648.398 Lipid Metabolism, Inborn Errors 154
C18.452.648.398.641 Lipidoses 35
C18.452.648.398.641.803 Sphingolipidoses 12
C18.452.648.398.641.803.350 Gangliosidoses 11
C18.452.648.398.641.803.350.300 Gangliosidoses, GM2 2
C18.452.648.398.641.803.350.360 Gangliosidosis, GM1 3
C18.452.648.595 Lysosomal Storage Diseases 73
C18.452.648.595.554 Lysosomal Storage Diseases, Nervous System 14
C18.452.648.595.554.825 Sphingolipidoses 12
C18.452.648.595.554.825.300 Gangliosidoses 11
C18.452.648.595.554.825.300.300 Gangliosidoses, GM2 2
C18.452.648.595.554.825.300.400 Gangliosidosis, GM1 3

Gangliosidosis, Generalized GM1, Late-Infantile Type Disease MeSH Browser

Gangliosidosis, Generalized GM1, Type I, with Cardiac Involvement Disease MeSH Browser

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