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  • In phenylketonuria, mutation occurs in ____ gene which is responsible for conversion of phenylalanine into tyrosine  Option: 1 Phenylalan

In phenylketonuria, mutation occurs in ____ gene which is responsible for conversion of phenylalanine into tyrosine
 

Option: 1

Phenylalanine Hydroxylase 
 


Option: 2

Phenylalanine only
 


Option: 3

Phenylalanine ammonia-lyase
 


Option: 4

None of the above
 


Answers (1)

best_answer

 

 

As we have discussed in 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.
     Hence, the correct option is (a).
Posted by

vinayak

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