Give scientific reasons : The product of phenylalanine catabolism excreted in the urine in phenylketonuria.
 

Vedclass pdf generator app on play store
Vedclass iOS app on app store

It is a rare disease in which individual lacks an enzyme called Phenylalanine hydroxylase. Which is needed to breakdown an essential amino acid phenylalanine into tyrosine in liver. This phenylalanine is accumulated and gets converted into phenylpyruvic acid and other derivatives

leading to mental retardation (due to accumulation in brain). These are also excreted through urine because of its poor absorption by kidney.

Similar Questions

A husband and wife have normal vision but fathers of both of them were colour blind. Probability of their first daughter to be colour blind is

  • [AIPMT 1990]

Describe Mendelian Disorder.
 

Following pedigree chart shows

Which disease is genetically linked

A colour blind man marries the daughter of a colour blind person. Then in their progeny

  • [AIIMS 1983]