Question

write notes on phenylketonuria ​

Answer 1

Answer:

This inborn error of metabolism is also inherited as the autosomal recessive trait. The affected individual lacks an enzyme that converts the amino acid phenylalanine into tyrosine.

➠As a result of this phenylalanine is accumulated and converted into phenylpyruvic acid and other derivatives.

➠Accumulation of these in brain results in mental retardation. These are also excreted through urine because of its poor absorption by kidney.