Phenylketonuria is another genetic diseases resulting from defect in
an enzyme (phenylalanine monooxygenase) involves in converting of phenylalanine
to tyrosine.
Many human genetic diseases are metabolic defects that are due to the
inability of the affected individual to dispose of specific dietary components.
Consequence of mutations in genes that encode the enzymes needed for the metabolism:
accumulation of the intermediate that is a substrate for that enzyme,
reduced level of all the intermediates below or after that step in the
pathway
Management of most genetic diseases related to metabolic defects is
possible to some extent.
Carrier identification and screening.
