A resource for
Children, Adults,
Families and
Professionals
Metabolic diseases are life threatening inheritable, genetic disorder 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 chemicals are often fatal, leading to either a slow deterioration with progressive physical and mental issues, or to rapid decline and death.
For some metabolic disorders, treatments are available and a few others can be managed by diet, however, many of these must be continued for life.
We are committed to fighting metabolic diseases through research, awareness and support. We are the UK's only dedicated organisation to provide information and support on all metabolic diseases to children, adults, families, carers and professionals.
Contact us today to find out how you can help.
Last Updated: 05 August 2010
