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Tay-Sachs Disease

Tay-Sachs disease is a rare, inherited disease. It is a type of lipid metabolism disorder. It causes too much of a fatty substance to build up in the brain. This buildup destroys nerve cells, causing mental and physical problems.

Infants with Tay-Sachs disease appear to develop normally for the first few months of life. Then mental and physical abilities decline. The child becomes blind, deaf, and unable to swallow. Muscles begin to waste away and paralysis sets in. Even with the best of care, children with Tay-Sachs disease usually die by age 4.

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Results 1 - 10 of 27 for "tay-sachs"
  1. Tay-Sachs Disease (National Library of Medicine)  
    Tay-Sachs disease is a rare, inherited disease. It is a type of lipid metabolism disorder. It causes ... cells, causing mental and physical problems. Infants with Tay-Sachs disease appear to develop normally for the first ...
    https://medlineplus.gov/taysachsdisease.html - Health Topics
  2. Tay-Sachs disease 
    Tay-Sachs disease is a rare, inherited disorder that is characterized by neurological problems caused by the death ... central nervous system).The most common form of Tay-Sachs disease, known as infantile Tay-Sachs disease, becomes ...
    https://medlineplus.gov/genetics/condition/tay-sachs-disease - Genetics
  3. Tay-Sachs disease 
    Tay-Sachs disease is a life-threatening disease of the nervous system passed down through families. ... Tay-Sachs disease occurs when the body lacks hexosaminidase A. This is a protein that helps break down ...
    https://medlineplus.gov/ency/article/001417.htm - Medical Encyclopedia
  4. Tay-Sachs - resources 
    The following organizations provide information on Tay-Sachs disease : National Center for Advancing Translational Sciences. Genetic and Rare Diseases Information Center -- rarediseases.info.nih.gov/diseases/7737/tay-sachs-disease ...
    https://medlineplus.gov/ency/article/003936.htm - Medical Encyclopedia
  5. Lipid Metabolism Disorders (National Library of Medicine)  
    ... Lipid metabolism disorders, such as Gaucher disease and Tay-Sachs disease, involve lipids. Lipids are fats or fat- ...
    https://medlineplus.gov/lipidmetabolismdisorders.html - Health Topics
  6. GM2 activator deficiency 
    ... condition. GM2 gangliosidosis, AB variant Hexosaminidase activator deficiency Tay-Sachs disease, AB variant Genetic Testing Registry: Tay-Sachs disease, variant AB GM2-gangliosidosis, B, B1, AB ...
    https://medlineplus.gov/genetics/condition/gm2-activator-deficiency - Genetics
  7. HEXA gene 
    ... 210 variants (also known as mutations) that cause Tay-Sachs disease have been identified in the HEXA gene. Tay-Sachs disease is a condition that is characterized by ...
    https://medlineplus.gov/genetics/gene/hexa - Genetics
  8. Chorionic Villus Sampling (CVS): MedlinePlus Medical Test 
    ... can cause pain, infections, organ damage, and strokes . Tay-Sachs disease , a disorder that causes fatty proteins to ... sight, hearing, and mental development. Most children with Tay-Sachs die by the age of 5. Trisomy 18 ( ... Internet]. Jacksonville (FL): The Nemours Foundation; c1995-2024.Tay-Sachs Disease; [reviewed 2020 Nov; cited 2024 May 02]; [ ...
    https://medlineplus.gov/lab-tests/chorionic-villus-sampling-cvs - Medical Tests
  9. Sandhoff disease 
    ... GM2 ganglioside. The other two conditions are called Tay-Sachs disease and GM2-gangliosidosis, AB variant, which are ... on burden of disease manifestations in late-onset Tay-Sachs and Sandhoff diseases. Orphanet J Rare Dis. 2020 ...
    https://medlineplus.gov/genetics/condition/sandhoff-disease - Genetics
  10. HEXB gene 
    ... B: understanding the molecular basis of Sandhoff and Tay-Sachs disease. J Mol Biol. 2003 Apr 11;327( ... Y, Tifft CJ, Proia RL. Molecular pathophysiology in Tay-Sachs and Sandhoff diseases as revealed by gene expression ...
    https://medlineplus.gov/genetics/gene/hexb - Genetics
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