phenylketonuria
FEN-ul-kee-tuh-NUR-ee-uh
Definition
A rare, inherited metabolic disorder where the body cannot properly break down the amino acid phenylalanine, potentially leading to developmental disabilities if left untreated.
Etymology
Derived from the German 'Phenylketonurie', it combines 'phenyl' (referring to the chemical group phenylalanine), 'ketone' (from the German 'Keton'), and 'uria' (a Greek-based suffix meaning urine), reflecting the presence of phenylketones in the urine of those affected.
In the news
Phenylketonuria is listed as one of the 19 specific genetic conditions screened for in newborns under the Egyptian initiative to prevent long-term health complications. Identifying it early is crucial because timely medical intervention can prevent the condition from causing physical and cognitive disabilities.
'100M Healthy Lives' Initiative: 792K newborns screened for genetic diseases
Read the full article ↗Egypt Today