Individuals with maple syrup urine disease have urine with a sweet odor due to an enzyme defect that leads to a buildup of leucine and other branched-chain amino acids in their tissues.Such individuals are usually treated with a diet that is low in these amino acids.This form of treatment is an example of

Question

Quizplus · Accepted Answer

The treatment of individuals with maple syrup urine disease by restricting the intake of amino acids, which are the substrates of the defective enzyme, is an example of restricting the substrate. This approach aims to reduce the accumulation of the toxic metabolites that result from the enzyme deficiency. The other choices do not accurately describe the type of treatment used in this case. Metabolic inhibition refers to the blocking of a metabolic pathway or enzyme, whereas supplying a missing protein pertains to the administration of a protein that is deficient or absent in a patient, neither of which is applicable in maple syrup urine disease. Ex vivo and in vivo somatic cell gene therapy involve introducing functional genes or correcting defective ones, which is not the method used in treating maple syrup urine disease.

Individuals with Maple Syrup Urine Disease Have Urine with a Sweet