Inherited metabolic diseases are a group of disorders that cause missing or defective enzymes. The enzyme problems can lead to:

  • A build up of harmful substances that the enzymes would otherwise breakdown
  • An inability to fully breakdown food for use in the cells

There are thousands of inherited metabolic diseases.

These diseases are caused by a problem with the genes that determine how specific enzymes are made. The genes are passed on from parent(s) to child.

Genetic Material
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