Patient's question:
Grows slower and has a higher intelligence than children of the same age. After careful examination, it is often said to be phenylketonuria. I want to know what phenylketonuria is?Doctor's answer:
Phenylketonuria (PKU) is a congenital amino acid metabolic disorder. PKU is caused by a deficiency in enzymes involved in phenylalanine metabolism, which prevents phenylalanine from being converted into tyrosine. This leads to the accumulation of phenylalanine and its ketone bodies, which are excreted in large amounts in the urine. PKU is relatively common among genetic amino acid metabolic disorders and follows an autosomal recessive inheritance pattern. Parents with a family history of this disease can undergo prenatal diagnosis through DNA testing or by measuring phenylalanine in amniotic fluid. Once diagnosed, increasing phenylalanine intake and implementing early, appropriate dietary restrictions can allow the child to grow up healthily like a normal child. Due to the lack of phenylalanine hydroxylase in their bodies, phenylpyruvate accumulates, so the earlier dietary restrictions are implemented, the better the outcome for the child.