Question

Phenylketonuria - Explain the genetic basis.

Answer 1

Phenylketonuria(commonly known as PKU)is an inherited disorder that increases the levels of a substance called phenylalanine in the blood. Phenylalanine is a building block of proteins (an aminoacid) that is obtained through the diet. It is foundin all proteins and in some artificial sweeteners. If PKU is not treated, phenylalanine can build up toharmful levels in the body, causing intellectual disability and other serious health problems.

Answer 2

Dear Student,

● Phenylketonuria -

It is accumulation of amino acid phenylalanine in body.

# Genetic basis -

• It is inborn error of metabolism with autosomal recessive inheritance.
• Associated gene is located on long arm of chromosome 12.
• There is mutation in gene coding for enzyme phenylalanine hydroxylase.
• Phenylalanine is not converted to tyrosine due to this.
• Extra phenylalanine is converted to phenylketones which are detected in urine.

Thanks dear. Hope this helps you...