Question
I don’t know what’s going on, but my child has been very disobedient lately, crying and fussing non-stop. We’ve gone to the hospital and the check-ups haven’t helped. What are the normal values for Phenylketonuria (PKU)?
Answer
The normal values for Phenylketonuria (PKU) are 0.06-0.18mmol/L (1-3mg/dl). Phenylketonuria is a common amino acid metabolic disorder caused by a deficiency in an enzyme during the metabolism of phenylalanine, leading to the inability to convert phenylalanine into tyrosine. This results in the accumulation of phenylalanine and its ketoacids in the body, which are then excreted in large quantities in the urine. The clinical manifestations mainly include delayed intellectual development, seizures, and increased pigmentation.