GM2 gangliosidoses

Dr Daniel J Bell et al.

The GM2 gangliosidoses are a small group of three closely-related rare genetic conditions, all due to a deficiency of beta-hexosaminidase, an enzyme vital for the metabolism of GM2 gangliosides in lysosomes, especially important in the brain. The GM2 gangliosidoses form a subgroup of the lysosomal storage diseases.

Inborn errors of metabolism
White matter disorders

Article information

rID: 78714
Synonyms or Alternate Spellings:
  • GM2 gangliosidosis

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