serw-MX  [xml]  
 


    
 DeCS Categories

C10 Nervous System Diseases .
C10.228 Central Nervous System Diseases .
C10.228.140 Brain Diseases .
C10.228.140.163 Brain Diseases, Metabolic .
C10.228.140.163.100 Brain Diseases, Metabolic, Inborn .
C10.228.140.163.100.435 Lysosomal Storage Diseases, Nervous System .
C10.228.140.163.100.435.825 Sphingolipidoses .
C10.228.140.163.100.435.825.300 Gangliosidoses .
C10.228.140.163.100.435.825.300.400 Gangliosidosis, GM1 .
C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities .
C16.320 Genetic Diseases, Inborn .
C16.320.565 Metabolism, Inborn Errors .
C16.320.565.189 Brain Diseases, Metabolic, Inborn .
C16.320.565.189.435 Lysosomal Storage Diseases, Nervous System .
C16.320.565.189.435.825 Sphingolipidoses .
C16.320.565.189.435.825.300 Gangliosidoses .
C16.320.565.189.435.825.300.400 Gangliosidosis, GM1 .
C16.320.565.398 Lipid Metabolism, Inborn Errors .
C16.320.565.398.641 Lipidoses .
C16.320.565.398.641.803 Sphingolipidoses .
C16.320.565.398.641.803.350 Gangliosidoses .
C16.320.565.398.641.803.350.360 Gangliosidosis, GM1 .
C16.320.565.595 Lysosomal Storage Diseases .
C16.320.565.595.554 Lysosomal Storage Diseases, Nervous System .
C16.320.565.595.554.825 Sphingolipidoses .
C16.320.565.595.554.825.300 Gangliosidoses .
C16.320.565.595.554.825.300.400 Gangliosidosis, GM1 .
C18 Nutritional and Metabolic Diseases .
C18.452 Metabolic Diseases .
C18.452.132 Brain Diseases, Metabolic .
C18.452.132.100 Brain Diseases, Metabolic, Inborn .
C18.452.132.100.435 Lysosomal Storage Diseases, Nervous System .
C18.452.132.100.435.825 Sphingolipidoses .
C18.452.132.100.435.825.300 Gangliosidoses .
C18.452.132.100.435.825.300.400 Gangliosidosis, GM1 .
C18.452.584 Lipid Metabolism Disorders .
C18.452.584.687 Lipidoses .
C18.452.584.687.803 Sphingolipidoses .
C18.452.584.687.803.350 Gangliosidoses .
C18.452.584.687.803.350.360 Gangliosidosis, GM1 .
C18.452.648 Metabolism, Inborn Errors .
C18.452.648.189 Brain Diseases, Metabolic, Inborn .
C18.452.648.189.435 Lysosomal Storage Diseases, Nervous System .
C18.452.648.189.435.825 Sphingolipidoses .
C18.452.648.189.435.825.300 Gangliosidoses .
C18.452.648.189.435.825.300.400 Gangliosidosis, GM1 .
C18.452.648.398 Lipid Metabolism, Inborn Errors .
C18.452.648.398.641 Lipidoses .
C18.452.648.398.641.803 Sphingolipidoses .
C18.452.648.398.641.803.350 Gangliosidoses .
C18.452.648.398.641.803.350.360 Gangliosidosis, GM1 .
C18.452.648.595 Lysosomal Storage Diseases .
C18.452.648.595.554 Lysosomal Storage Diseases, Nervous System .
C18.452.648.595.554.825 Sphingolipidoses .
C18.452.648.595.554.825.300 Gangliosidoses .
C18.452.648.595.554.825.300.400 Gangliosidosis, GM1 .
D08 Enzymes and Coenzymes .
D08.811 Enzymes .
D08.811.277 Hydrolases .
D08.811.277.450 Glycoside Hydrolases .
D08.811.277.450.410 Galactosidases .
D08.811.277.450.410.100 beta-Galactosidase .
 
 Terms
 Synonyms & Historicals
Documents
LILACS e MDL
 
beta-Galactosidase .
Dairyaid .
Lactaid .
Lactogest .
Lactrase .
beta-D-Galactosidase .
beta-Galactosidase A1 .
beta-Galactosidase A2 .
beta-Galactosidase A3 .
beta-Galactosidases .
lac Z Protein .
Protein, lac Z .
beta D Galactosidase .
beta Galactosidase .
beta Galactosidase A1 .
beta Galactosidase A2 .
beta Galactosidase A3 .
beta Galactosidases .
Lactases .
A group of enzymes that catalyzes the hydrolysis of terminal, non-reducing beta-D-galactose residues in beta-galactosides. Deficiency of beta-Galactosidase A1 may cause GANGLIOSIDOSIS, GM1. .
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Gangliosidosis, GM1 .
Adult GM1 Gangliosidosis .
Beta-Galactosidase-1 (GLB1) Deficiency .
Beta-Galactosidase-1 Deficiency Disease .
Beta-Galactosidosis .
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 .
Beta Galactosidase 1 Deficiency Disease .
Beta Galactosidosis .
Deficiencies, GLB1 .
Deficiency, GLB1 .
Deficiency, beta Galactosidase .
Deficiency, beta-Galactosidase .
Deficiency, beta-Galactosidase-1 .
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 .
Gangliosidosis, Adult GM1 .
Infantile Gangliosidosis GM1 .
Juvenile Gangliosidosis GM1 .
Type I GM1-Gangliosidoses .
Type I GM1-Gangliosidosis .
Type II GM1-Gangliosidoses .
Type II GM1-Gangliosidosis .
Type III GM1-Gangliosidoses .
Type III GM1-Gangliosidosis .
G(M1) Gangliosidosis .
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) .
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