In Phenylketonuria the main aim of first line therapy is:
Correct Answer: Limiting the substrate for deficient enzyme
Description: Ans is 'c' i.e. Limiting the substrate for deficient enzyme Classical (typeI) phenylketonuria is caused by deficiency of phenylalanine hydroxylase enzyme. The reaction catalyzed by this enzyme is:Deficiency of phenylalanine hydroxylase results in accumulation of phenylalanine and its byproducts (i.e. Phenyl lactate, phenylacetate and phenylpyruvate). Elevated levels of phenylalanine and its byproducts would lead to severe mental retardation if not treated in infancy.Treatment consists of a special diet low in phenylalanine.(diet must also be supplemented with tyrosine; since tyrosine becomes an essential amino acid due to deficiency of phenylalanine hydroxylase) Initiation of dietary treatment of classic phenylketonuria must occur before the child is 3 weeks of age.
Category:
Biochemistry
Get More
Subject Mock Tests
Practice with over 200,000 questions from various medical subjects and improve your knowledge.
Attempt a mock test nowMock Exam
Take an exam with 100 random questions selected from all subjects to test your knowledge.
Coming SoonGet More
Subject Mock Tests
Try practicing mock tests with over 200,000 questions from various medical subjects.
Attempt a mock test now