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Phenylketonuria MCQ - NEET Practice Questions with Answers

Edited By admin | Updated on Sep 18, 2023 18:34 AM | #NEET

Quick Facts

  • Phenylketonuria is considered one of the most asked concept.

  • 10 Questions around this concept.

Solve by difficulty

Study the pedigree chart given below: What does it show?

Phenylketonuria (PKU) is caused due to a deficiency of which enzyme?

 

What is the recommended treatment for PKU?

Cause of phenylketonuria is /are

Which one of the following conditions is not responsible for the presence of deoxygenated blood in the arteries of a newborn?

(a) Pneumonia 

(b) Atrial septal defect 

(c) Shunt between the pulmonary artery and aorta 

(d) Phenylketonuria

Concepts Covered - 0

Phenylketonuria
  • It is an inborn error of metabolism, which is inherited as an autosomal recessive trait.
  • It is a rare disease in which the individual is born without the ability to properly breakdown an amino acid called phenylalanine.
  • Individuals with this disease have a missing enzyme called phenylalanine hydroxylase, which is needed to break down an essential amino acid phenylalanine into tyrosine in the liver. 
  • This phenylalanine is accumulated and gets converted into phenyl pyruvic acid and other derivatives leading to mental retardation.
     

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