A single mutation in an enzyme can lead to a fatal disease

04/07/2015 | Comments Off on A single mutation in an enzyme can lead to a fatal disease

Mutations in enzymes can lead to serious or fatal disorders in humans and are the consequence of inherited abnormalities in the DNA of the affected individual. The mutation may be just as a single abnormal amino acid residue at a specific position in an enzyme encoded by a mutated gene. An example of such an inherited genetic disorder is Maple Syrup Urine Disease (MSUD), also called branched-chain ketoaciduria.