Answer to Question #196517 in Biology for Sudip Saha

Question #196517

Elaborate with one example why the phenomenon of enzyme catalysis is essential for the living system.

Expert's answer

Mutations in genes that encode enzyme often lead to the development of genetic diseases associated with severe metabolic disorders and abnormalities. For instance, a single mutation in one of three enzymes of the branched-chain alpha-keto acid (2-oxo acid) dehydrogenase complex causes maple syrup urine disease, also called branched-chain ketoaciduria. The common form of the disorder is manifested within the first weeks of life and if untreated leads to seizures, coma and finally death. The example demonstrates that impaired enzyme catalysis leads to severe disease while normal enzymatic activity is essential for the living system.

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