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Tay Sachs disease

Background

Tay Sachs is a life-threatening, progressive, genetic, lysosomal storage disease. Like all metabolic diseases there is a block because a catalyst or enzyme, necessary to perform essential chemical reactions in the body, is absent or malfunctioning. This defect results in the build up of chemicals on one side of the metabolic blockage and a deficiency of vital chemicals on the other. In this case the enzyme concerned is hexosaminidase A (hex-A). In its absence a lipid GM(2) ganglioside builds up abnormally in the body. The nerve cells in the brain are particularly affected.

What are the symptoms? View What are the symptoms?

Medical text written November 1991 by Contact a Family. Approved November 1991 by Professor M Patton, Professor of Medical Genetics, St Georges Hospital Medical School, London, UK and Dr J E Wraith. Last updated December 2005 by Contact a Family. Approved December 2005 by Dr J E Wraith, Consultant Paediatrician, Royal Manchester Children's Hospital, Manchester, UK.

 

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