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)

Descriptor ID	D016537
MeSH 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 C18.452.584.687.803.350.360 C18.452.648.189.435.825.300.400 C18.452.648.398.641.803.350.360 C18.452.648.595.554.825.300.400
Concept/Terms	Gangliosidosis, GM1 Gangliosidosis, GM1 G(M1) Gangliosidosis Gangliosidosis GM1 GM1 Gangliosidosis Beta-Galactosidase-1 Deficiency Disease Beta Galactosidase 1 Deficiency Disease Beta-Galactosidase-1 Deficiency Diseases Deficiency Disease, Beta-Galactosidase-1 Deficiency Diseases, Beta-Galactosidase-1 Disease, Beta-Galactosidase-1 Deficiency Gangliosidosis G(M1) Gangliosidosis, Generalized GM1, Type 1 Gangliosidosis, Generalized GM1, Type 1 Gangliosidosis Generalized GM1, Type 1 Generalized Gangliosidosis Gangliosidosis GM1, Type 1 Gangliosidosis, Generalized GM1, Infantile Form Gangliosidosis, Generalized GM1, Type I GM1-Gangliosidosis, Type I GM1 Gangliosidosis, Type I GM1-Gangliosidoses, Type I Type I GM1-Gangliosidoses Type I GM1-Gangliosidosis Gangliosidosis GM1, Infantile Infantile Gangliosidosis GM1 Gangliosidosis, Generalized GM1, Type 3 Gangliosidosis, Generalized GM1, Type 3 Gangliosidosis GM1 Type 3 Gangliosidosis GM1, Adult Type 3 (Adult) GM1 Gangliosidosis Gangliosidosis, Generalized GM1, Adult Type Gangliosidosis, Generalized GM1, Chronic Type Gangliosidosis, Generalized GM1, Type III GM1-Gangliosidosis, Type III GM1 Gangliosidosis, Type III GM1-Gangliosidoses, Type III Type III GM1-Gangliosidoses Type III GM1-Gangliosidosis Adult GM1 Gangliosidosis GM1 Gangliosidosis, Adult Gangliosidosis, Adult GM1 Gangliosidosis GM1, Type 3 beta-Galactosidase Deficiency beta-Galactosidase Deficiency Deficiencies, beta-Galactosidase Deficiency, beta-Galactosidase beta-Galactosidase Deficiencies GLB1 Deficiency Deficiencies, GLB1 Deficiency, GLB1 GLB1 Deficiencies beta-Galactosidase-1 Deficiency Deficiencies, beta-Galactosidase-1 Deficiency, beta-Galactosidase-1 beta-Galactosidase-1 Deficiencies beta Galactosidase 1 Deficiency beta Galactosidase Deficiency Deficiencies, beta Galactosidase Deficiency, beta Galactosidase Galactosidase Deficiencies, beta Galactosidase Deficiency, beta Gangliosidosis, Generalized GM1, Type 2 Gangliosidosis, Generalized GM1, Type 2 Gangliosidosis GM1, Type 2 GM1-Gangliosidosis, Type II GM1 Gangliosidosis, Type II GM1-Gangliosidoses, Type II Type II GM1-Gangliosidoses Type II GM1-Gangliosidosis Gangliosidosis, Generalized GM1, Juvenile Type Gangliosidosis, Generalized GM1, Type II Gangliosidosis GM1, Juvenile Juvenile Gangliosidosis GM1 Gangliosidosis, Generalized GM1 Type 2

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