Question
I recently noticed that my friend’s child seems to have some intellectual delays. Upon inquiry, I learned that he has phenylketonuria. Hello, what is phenylketonuria?
Answer
Phenylketonuria is a common amino acid metabolism disorder. This is due to a deficiency in enzymes involved in the breakdown of phenylalanine, which prevents it from being converted into tyrosine, resulting in the accumulation of phenylalanine and its ketones, and their excessive excretion in urine. The condition manifests as intellectual delays, seizures, and increased pigmentation. Once diagnosed, treatment should be initiated as soon as possible. Avoid close relatives from marrying. Pregnant women with a family history must undergo DNA screening or testing the level of phenylalanine in amniotic fluid for prenatal diagnosis. Since phenylketonuria is a genetic disorder, both parents and children need to undergo blood sample genetic testing.