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.

This process begins in the fetus during pregnancy. However the baby usually develops normally until about 6 months of age. The nervous system is progressively affected and the disease is usually fatal by the age of 3-5 years.

Inheritance patterns: Autosomal recessive inheritance. 1 in 25 Ashkenazi Jews and 1 in 250 of the general population are carriers of the disease. Carrier detection is available through genetic clinics.

Pre-Natal diagnosis: Chorionic villus sampling at 8 - 10 weeks.

Further information available from:

CLIMB,
The Quadrangle
Crewe Hall
Weston road
Crewe
CW1 6UR
(Tel: 01270 250221   Fax: 01270 250244)

http://www.climb.org.uk

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CLIMB http://www.climb.org.uk is a Registered charity No.283541 and was formally known as the Research Trust for Metabolic diseases in children (RTMDC). It offers:

• Medical information to parents, professionals and others
• Support for families through counselling and advice
• Visit of families at the time of diagnosis, at bereavement or on request at any time
• Financial support as and when necessary
• Southern support co-ordinator

Activities:

• National annual conference
• Development of local branches
• Network of parents
• Area and satellite meetings

The Trust represents over 4000 families of affected children and is growing at a rate of 300-400 a year.