Question

Can phenylketonuria be detected before birth?

Answer 1

Phenylketonuria:

1. It is an autosomal recessive disease caused by the deficiency of the phenylalanine hydroxylase enzyme (which converts phenylalanine to tyrosine).
2. Phenylalanine is not converted to tyrosine and therefore gets accumulated in the body.
3. Nerve cells are sensitive to phenylalanine levels.
4. Therefore, an increase in its concentration in the body negatively impacts individuals.
5. Symptoms: irritability, convulsions, mental retardation, microcephaly, etc.
6. Prenatal tests such as amniocentesis and chorionic villus sampling help detect phenylketonuria early (before birth).