Diseases

GM1 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)

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

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)

MeSH Record

Classification

Broader headings

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MeSH Record

See Also

MeSH Record

Synonyms

60 entry terms
  • Beta-Galactosidase-1 Deficiency Disease
  • Beta-Galactosidosis
  • G(M1) Gangliosidosis
  • Gangliosidosis G(M1)
  • Gangliosidosis GM1
  • Gangliosidosis, GM1
  • Beta Galactosidase 1 Deficiency Disease
  • Beta Galactosidosis
  • Adult GM1 Gangliosidosis
  • Beta-Galactosidase-1 (GLB1) Deficiency
  • GLB1 Deficiency
  • GM1-Gangliosidosis, Type I
  • GM1-Gangliosidosis, Type II
  • GM1-Gangliosidosis, Type III
  • 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
  • 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

MeSH Record

Aspects Covered

34 allowable subheadings

Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.

MeSH Record

History Note

2007(1992)

MeSH Record

Previous Indexing

  • Gangliosidoses (1976-1991)
  • Lipoidosis (1966-1975)
  • Metabolism, Inborn Errors (1966-1975)

MeSH Hierarchy

Tree Numbers

  1. C10w.228w.140w.163.100.435.825w.300w.400w
  2. C16w.320w.565w.189.435.825w.300w.400w
  3. C16w.320w.565w.398w.641w.803w.350w.360w
  4. C16w.320w.565w.595w.554.825w.300w.400w
  5. C18.452w.132.100.435.825w.300w.400w
  6. C18.452w.584w.563w.641w.803w.350w.360w
  7. C18.452w.648w.189.435.825w.300w.400w
  8. C18.452w.648w.398w.641w.803w.350w.360w
  9. C18.452w.648w.595w.554.825w.300w.400w

AMA Style

References

  1. National Library of Medicine. GM1 Gangliosidosis. Medical Subject Headings (MeSH). 2026. Unique ID D016537. http://id.nlm.nih.gov/mesh/2026/D016537
  2. GM1 Gangliosidosis. In: Wikipedia. https://en.wikipedia.org/wiki/GM1_gangliosidoses
  3. GM1 Gangliosidosis. In: Wikidata. https://www.wikidata.org/wiki/Q5513690