Search on: BETA-GALACTOSIDOSIS 
Descriptors Found: 1
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Descriptor English:   Gangliosidosis, GM1 
Descriptor Spanish:   Gangliosidosis GM1 
Descriptor Portuguese:   Gangliosidose GM1 
Synonyms English:   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  
Tree Number:   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
Definition English:   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 Related English:   beta-Galactosidase
 
History Note English:   2007(1992) 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
DG diagnostic imaging DH diet therapy
DT drug therapy EC economics
EM embryology EN enzymology
EP epidemiology EH ethnology
ET etiology GE genetics
HI history IM immunology
ME metabolism MI microbiology
MO mortality NU nursing
PS parasitology PA pathology
PP physiopathology PC prevention & control
PX psychology RT radiotherapy
RH rehabilitation SU surgery
TH therapy UR urine
VE veterinary VI virology
Record Number:   30091 
Unique Identifier:   D016537 

Occurrence in VHL:
 

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