Phenylketonuria is a genetic disorder of

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

Question

(D) Phenylketonuria $(PKU)$ is an inborn error of metabolism.It is caused by an autosomal recessive mutation of a gene located on chromosome $12$.This

Vedclass · Accepted Answer

Autosomal recessive gene

Vedclass · Answer

(D) Phenylketonuria $(PKU)$ is an inborn error of metabolism.It is caused by an autosomal recessive mutation of a gene located on chromosome $12$.This mutation leads to the deficiency of the enzyme phenylalanine hydroxylase,which is required to convert the amino acid phenylalanine into tyrosine.As a result,phenylalanine accumulates and is converted into phenylpyruvic acid and other derivatives,which leads to mental retardation.

Similar Questions

Assertion: Haemophilia is a recessive sex-linked disease.
Reason: Haemophilia occurs due to mutation of a structural gene on chromosome $15$.

What is the cause of haemophilia?

Sickle-cell anaemia happens due to $A$ mutation in which $B$ of haemoglobin is affected. Fill the correct option for $A$ and $B$.

The pedigree chart given below shows a particular trait which is absent in parents but present in the next generation irrespective of sexes. Draw your conclusion on the basis of the pedigree.

Mental retardation in children suffering from galactosemia can be avoided by

Vedclass Test Series

Exam Paper Generator

Online Exam Module