Tay-Sachs disease (GM2 gangliosidosis, type 1 or infantile cerebral sphingolipidosis, Infantile amaurotic familial idiocy)
Jump to navigation
Jump to search
Epidemiology
- occurs mainly among Jews of Eastern European origin
Pathology
- hexosaminidase A deficiency
- abnormal metabolism of GM2 gangliosides
- cerebral atrophy
Genetics
- autosomal recessive
- HEXA gene mutations are the cause of Tay-Sachs disease
- defects in PSAP saposin D region are a cause of Tay-Sachs disease variant
- defects in GM2A are the cause of Tay-sachs disease AB variant
Clinical manifestations
- Early manifestations
- insidious onset in apparently healthy infants
- decreased motor activity
- flaccidity
- apathy
- inattentiveness
- Late manifestations
- spasticity
- clonus
- positive Babinski sign
- convulsions
- blindness
- mental retardation
- cherry red spot on macula
- death between 1st & 4th year of life
Laboratory
- PSAP genotyping
- HEXA gene mutation
- HEXA gene deletion
- see ARUP consult[2]
More general terms
Additional terms
References
- ↑ Textbook of Biochemistry with Clinical Correlations, 3rd ed., TM Devlin (ed), Wiley-Liss, NY 1992 pg 459
- ↑ 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 - ↑ 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