Metabolic diseases are a group of 1,300 identified life-threatening inheritable genetic disorders in which errors of metabolism occur involving a block where a catalyst or enzyme 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. This causes an overdose of one or more, often toxic, chemicals and the shortage of others which are essential to normal body functioning.

The consequences of such chemical imbalance are often fatal, leading to either a slow deterioration with progressive physical and mental handicap, or to rapid decline and death. For some metabolic disorders treatments are available. However many of these must be continued for life.

Inheritance Patterns:   These depend on the particular metabolic condition involved. In the minority of conditions inheritance is autosomal recessive. However some are X-linked or dominant, while in a few conditions the incidence is sporadic. Genetic councilling is available.

Pre-Natal Diagnosis: Pre-natal diagnosis is available for those conditions for which enzyme indentification is known through a range of techniques including chorionic villus sampling, amniocentesis and fetal blood sampling. But there is a group where the specific enzyme disfunction has not been fully discovered and no pre-natal diagnosis is available.

Further information available from:

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

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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.