GM1 Gangliosidosis

M. C. Patterson

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

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.
Pages460
Number of pages1
ISBN (Electronic)9780123851574
ISBN (Print)9780123851581
DOIs
StatePublished - Jan 1 2014

Keywords

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

ASJC Scopus subject areas

  • Medicine(all)

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  • Cite this

    Patterson, M. C. (2014). GM1 Gangliosidosis. In Encyclopedia of the Neurological Sciences (pp. 460). Elsevier Inc.. https://doi.org/10.1016/B978-0-12-385157-4.00099-3