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Gangliosidosis, GM1 MeSH Descriptor Data 2022


MeSH Heading
Gangliosidosis, GM1
Tree Number(s)
C10.228.140.163.100.435.825.300.400
C16.320.565.189.435.825.300.400
C16.320.565.398.641.803.350.360
C16.320.565.595.554.825.300.400
C18.452.132.100.435.825.300.400
C18.452.584.563.641.803.350.360
C18.452.648.189.435.825.300.400
C18.452.648.398.641.803.350.360
C18.452.648.595.554.825.300.400
Unique ID
D016537
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D016537
Scope Note
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)
Entry Term(s)
Adult GM1 Gangliosidosis
Beta-Galactosidase-1 (GLB1) Deficiency
Beta-Galactosidase-1 Deficiency Disease
Beta-Galactosidosis
G(M1) Gangliosidosis
GLB1 Deficiency
GM1 Gangliosidosis
GM1-Gangliosidosis, Type I
GM1-Gangliosidosis, Type II
GM1-Gangliosidosis, Type III
Gangliosidosis G(M1)
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 1
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
Type 3 (Adult) GM1 Gangliosidosis
beta Galactosidase 1 Deficiency
beta Galactosidase Deficiency
beta-Galactosidase Deficiency
beta-Galactosidase-1 Deficiency
Previous Indexing
Gangliosidoses (1976-1991)
Lipoidosis (1966-1975)
Metabolism, Inborn Errors (1966-1975)
See Also
beta-Galactosidase
Public MeSH Note
2007; see GANGIOSIDOSIS GM1 2000-2006, see GANGLIOSIDOSIS G(M1) 1992-1999
History Note
2007(1992)
Date Established
1992/01/01
Date of Entry
1991/06/21
Revision Date
2021/07/01
Gangliosidosis, GM1 Preferred
Gangliosidosis, Generalized GM1, Type 3 Narrower
Gangliosidosis, Generalized GM1, Type 2 Narrower
beta-Galactosidase Deficiency Related
Gangliosidosis, Generalized GM1, Type 1 Narrower
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