Question

What is Milder Phenylketonuria?

Answer

Milder Phenylketonuria (PKU) is a genetic metabolic disorder caused by reduced activity of the enzyme phenylalanine hydroxylase or a deficiency of its cofactor tetrahydrobiopterin. This enzyme defect leads to a blockage in the metabolism of phenylalanine to tyrosine, resulting in elevated levels of phenylalanine in the blood and tissues, and a significant increase in the levels of phenylpyruvate, phenylacetic acid, and phenyllactic acid in the urine, hence the name “phenylketonuria.”