Orphanet: GM2 gangliosidosis, AB variant

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GM2 gangliosidosis, AB variant

Disease definition

GM2 gangliosidosis, AB variant is an extremely rare, severe genetic disorder characterized by progressive neurological decline due to ganglioside activator deficiency.


Classification level: Disorder
  • Synonym(s):
    • Hexosaminidase activator deficiency
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Infancy
  • ICD-10: E75.0
  • OMIM: 272750
  • UMLS: C0268275
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

Article for general public


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