Gangliosidosis, GM1
Synonyms
Adult GM1 Gangliosidosis
Beta Galactosidase 1 Deficiency Disease
Beta Galactosidosis
Beta-Galactosidase-1 (GLB1) Deficiency
Beta-Galactosidase-1 Deficiency Disease
Beta-Galactosidosis
Deficiencies, GLB1
Deficiency, GLB1
Deficiency, beta Galactosidase
Deficiency, beta-Galactosidase
Deficiency, beta-Galactosidase-1
G(M1) Gangliosidosis
GLB1 Deficiency
GM1 Gangliosidosis
GM1 Gangliosidosis, Adult
GM1 Gangliosidosis, Type I
GM1 Gangliosidosis, Type II
GM1 Gangliosidosis, Type III
GM1-Gangliosidoses, Type I
GM1-Gangliosidoses, Type II
GM1-Gangliosidoses, Type III
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, Adult GM1
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
Infantile Gangliosidosis GM1
Juvenile Gangliosidosis GM1
Type 3 (Adult) GM1 Gangliosidosis
Type I GM1-Gangliosidoses
Type I GM1-Gangliosidosis
Type II GM1-Gangliosidoses
Type II GM1-Gangliosidosis
Type III GM1-Gangliosidoses
Type III GM1-Gangliosidosis
beta Galactosidase 1 Deficiency
beta Galactosidase Deficiency
beta-Galactosidase Deficiency
beta-Galactosidase-1 Deficiency
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)
See Also