Tay-Sachs disease (GM2 gangliosidosis, type 1 or infantile cerebral sphingolipidosis, Infantile amaurotic familial idiocy)

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Epidemiology

  • occurs mainly among Jews of Eastern European origin

Pathology

Genetics

Clinical manifestations

Laboratory

More general terms

Additional terms

References

  1. Textbook of Biochemistry with Clinical Correlations, 3rd ed., TM Devlin (ed), Wiley-Liss, NY 1992 pg 459
  2. 2.0 2.1 ARUP Consult: Tay-Sachs Disease Testing https://arupconsult.com/ati/tay-sachs-disease-testing
    ARUP Consult: Jewish Genetic Disease The Physician's Guide to Laboratory Test Selection & Interpretation
    Ashkenazi Jewish Genetic Diseases Carrier Screening Algorithm https://arupconsult.com/algorithm/jewish-genetic-diseases-carrier-screening-algorithm
    Ashkenazi Jewish Genetic Diseases Panel https://arupconsult.com/ati/ashkenazi-jewish-genetic-diseases-panel
  3. NINDS Tay-Sachs Disease Information Page https://www.ninds.nih.gov/Disorders/All-Disorders/Tay-Sachs-Disease-Information-Page
    Learning About Tay-Sachs Disease http://www.genome.gov/page.cfm?pageID=10001220

Patient information

Tay-Sachs disease patient information

Database