|
About:
|
A large number of genetic conditions are caused by an alteration in the production, activity or function of proteins (enzymes) essential in
making the body’s chemical system (metabolism) work correctly. Often the metabolic system involves a number of different steps, each
directed by an enzyme. A malfunction of an enzyme at just one step in the pathway can lead to an accumulation of toxic substances, or a
reduction in the quantity of an essential cell product.
Treatment may involve manipulation of an individual’s diet to avoid substances that the body cannot break down, because of the
metabolic condition. In other types of metabolic conditions, the enzymes are not stored properly in the cells, and this affects their ability
to work correctly. Many genetic metabolic conditions have a specific support group. Others may be so rare that a specific group does not
exist. |