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 language | English (US) |
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Title of host publication | Encyclopedia of the Neurological Sciences |
Publisher | Elsevier Inc. |
Pages | 460 |
Number of pages | 1 |
ISBN (Electronic) | 9780123851574 |
ISBN (Print) | 9780123851581 |
DOIs | |
State | Published - Jan 1 2014 |
Keywords
- Angiokeratomas
- B-galactosidase
- Cherry-red spot
- Dystonia
- GM1
- Galactosialidosis
- Gangliosidosis
- Hypertrophic cardiomyopathy
- Morquio B
- Vacuolated lymphocytes
ASJC Scopus subject areas
- General Medicine