Sandhoff disease
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Introduction
Infantile form of GM2 gangliosidosis.
Epidemiology
non-Jewish children
Pathology
- defect in production of hexosaminidase A & B
- accumulation of glucoside & GM2 ganglioside
Genetics
- mutation in the hexosaminidase B gene on chromosome 5q
Clinical manifestations
- resembles Tay-Sachs disease
Laboratory
More general terms
More specific terms
References
- ↑ Stedman's Medical Dictionary 27th ed, Williams & Wilkins, Baltimore, 1999
- ↑ NINDS Sandhoff Disease Information Page https://www.ninds.nih.gov/Disorders/All-Disorders/Sandhoff-Disease-Information-Page
Patient information
Sandhoff disease patient information