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Sandhoff disease

Infantile form of GM2 gangliosidosis. Epidemiology: non-Jewish children Pathology: 1) defect in production of hexosaminidase A & B 2) accumulation of glucoside & GM2 ganglioside Genetics: - mutation in the hexosaminidase B gene on chromosome 5q Clinical manifestations: - resembles Tay-Sachs disease Laboratory: - beta-N-acetylhexosaminidase B in serum - HEXB gene mutation

Specific

osmolarity

General

GM2 gangliosidosis

Database Correlations

OMIM 268800

References

  1. Stedman's Medical Dictionary 27th ed, Williams & Wilkins, Baltimore, 1999
  2. NINDS Sandhoff Disease Information Page https://www.ninds.nih.gov/Disorders/All-Disorders/Sandhoff-Disease-Information-Page