Assertion: Phenylketonuria is an autosomal re | vedclass

Name: Exam Paper Generator | JEE NEET Paper Generator | Vedclass
Brand: Vedclass
Rating: 5 (35 reviews)

Question

(A) $1$. Phenylketonuria $(PKU)$ is an autosomal recessive genetic disorder.$2$. It is caused by the deficiency of the enzyme $phenylalanine$ $hydroxy

Vedclass · Accepted Answer

If both Assertion and Reason are correct and the Reason is a correct explanation of the Assertion.

Vedclass · Answer

(A) $1$. Phenylketonuria $(PKU)$ is an autosomal recessive genetic disorder.$2$. It is caused by the deficiency of the enzyme $phenylalanine$ $hydroxylase$, which is responsible for converting the amino acid $phenylalanine$ into $tyrosine$.$3$. Due to the lack of this enzyme, $phenylalanine$ accumulates in the body and is converted into $phenylpyruvic$ acid and other derivatives.$4$. These derivatives are excreted in the urine, hence the name $Phenylketonuria$.$5$. Therefore, both the Assertion and the Reason are correct, and the Reason explains the metabolic consequence leading to the clinical manifestation.

Assertion: Phenylketonuria is an autosomal recessive hereditary disease caused by the body's failure to oxidize the amino acid $phenylalanine$ to $tyrosine$ due to a defective enzyme.
Reason: It results in the accumulation of $phenylpyruvic$ acid and its derivatives in the urine.

Similar Questions

If a man who is colour blind marries a woman who is pure normal for colour vision,the chances of their sons having colour blindness is

What is the probability of having a color-blind male child from two normal parents?

Which disorder is related to the quantitative amount of hemoglobin?

Which one is a sex-linked disease?

The gene for colour blindness is located on

Vedclass Test Series

Exam Paper Generator

Online Exam Module

Assertion: Phenylketonuria is an autosomal recessive hereditary disease caused by the body's failure to oxidize the amino acid $phenylalanine$ to $tyrosine$ due to a defective enzyme.Reason: It results in the accumulation of $phenylpyruvic$ acid and its derivatives in the urine.