Patient's question:
I don't know what's going on, but my child has been misbehaving and crying non-stop recently. Even the hospital check-ups haven't helped. Could you please tell me the normal value for phenylketonuria (PKU)?Doctor's answer:
PKU (phenylketonuria) normal values are 0.06—0.18 mmol/L (1—3 mg/dL). Phenylketonuria is a common amino acid metabolic disease, where a deficiency in certain enzymes during the catabolism of phenylalanine leads to the inability of phenylalanine to be converted into tyrosine. This results in the accumulation of phenylalanine and its ketone bodies, which are excreted in large amounts in the urine. Clinical diagnosis primarily manifests as intellectual disability, recurrent seizures, and increased pigmentation.