Gangliosidosis, GM1


Adult GM1 Gangliosidosis

Beta Galactosidase 1 Deficiency Disease

Beta Galactosidosis

Beta-Galactosidase-1 (GLB1) Deficiency

Beta-Galactosidase-1 Deficiency Disease


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)