GM1 Gangliosidosis

M. C. Patterson

Research output: Chapter in Book/Report/Conference proceedingChapter


GM1 gangliosidosis describes a family of disorders that result from deficient activity of the lysosomal hydrolase, β-galactosidase, and which manifest varying degrees of neurodegeneration, retinal cherry-red spots, and visceromegaly. The three traditional subgroups of infantile, juvenile, and adult GM1 gangliosidosis show phenotypic overlap, although in general, the earlier the onset, the more severe the manifestations. β-Galactosidase deficiency also occurs in Morquio B syndrome, in which skeletal dysplasia and corneal clouding dominate the clinical picture, and in galactosialidosis, in which both β-galactosidase and neuraminidase deficiency occur secondary to deficiency of protective protein/cathepsin A.

Original languageEnglish (US)
Title of host publicationEncyclopedia of the Neurological Sciences
PublisherElsevier Inc.
Number of pages1
ISBN (Electronic)9780123851574
ISBN (Print)9780123851581
StatePublished - Jan 1 2014


  • Angiokeratomas
  • B-galactosidase
  • Cherry-red spot
  • Dystonia
  • Galactosialidosis
  • Gangliosidosis
  • GM1
  • Hypertrophic cardiomyopathy
  • Morquio B
  • Vacuolated lymphocytes

ASJC Scopus subject areas

  • General Medicine


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