Patient's question:
Grows relatively slowly, 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 is a congenital amino acid metabolic disorder. Phenylketonuria is caused by an enzyme deficiency in the metabolism of phenylalanine, which prevents phenylalanine from being converted into tyrosine, leading to the accumulation of phenylalanine and its ketone bodies, which are excreted in large quantities in the urine. This condition is relatively common among genetic amino acid metabolic disorders, and its inheritance pattern is autosomal recessive. 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 and 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.