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Tay Sachs disease

Background

Tay Sachs disease is a life-threatening, genetic, metabolic disease (see entry Inherited Metabolic diseases). The enzyme that is lacking is hexosaminidase A (hex-A). In its absence, a lipid, GM(2) ganglioside, builds up abnormally in the body. This build-up destroys the nerve cells, causing mental and physical problems.

What are the symptoms? View What are the symptoms?

Medical text written December 2011 by Dr R Vara, Consultant in Paediatric Inherited Metabolic Disease and Dr H Mundy, Consultant in Paediatric Inherited Metabolic Disease, Evelina Children's Hospital, London, UK.

 

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