| Phenylketonuria (PKU) results due to absence of phenylalanine hydroxylase and Alkaptonuria (AKU) results due to the absence of homogentisic acid oxidase. The following pathway shows where these enzymes function. |
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| If a person is homozygous for recessive alleles of both PKU and AKU, he will show symptoms of: |
A) Only PKU.
B) Only AKU.
C) PKU and AKU simultaneously.
D) PKU initially and later AKU.
Correct Answer: A
Solution :
The person homozygous for recessive alleles of both PKU and AK.U will have non-functional phenylalanine hydroxylase and homogentisic acid oxidase. Since phenylalanine hydroxylase functions first in the pathway, reactions catalysed by this enzyme and further reactions will not occur. Thus, this individual will show symptoms of PKU only
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