Refer to the figure. A child is born with a metabolic disorder in which there is a failure to produce an essential protein in brain development.This phenotype is the result of a single nonfunctional enzyme.The substrate for this enzyme does not build up in the brain, as it is essential for other metabolic pathways.Which is the best treatment strategy for this genetic disease?

Question

Refer to the figure.  A child is born with a metabolic disorder in which there is a failure to produce an essential protein in brain development.This phenotype is the result of a single nonfunctional enzyme.The substrate for this enzyme does not build up in the brain, as it is essential for other metabolic pathways.Which is the best treatment strategy for this genetic disease?

Quizplus · Accepted Answer

The best treatment strategy for this genetic disease is restoration of the missing enzyme. As the phenotype is a result of a single nonfunctional enzyme, restoring the missing enzyme would be the most effective approach. Restriction of the substrate or addition of a metabolic inhibitor may be detrimental as the substrate is likely essential for other metabolic pathways. Combination of restriction of the substrate and addition of a metabolic inhibitor would also not be ideal as it would have negative effects on other metabolic pathways.

Refer to the Figure