Metabolic diseases are 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 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.