Patient's question:
I want to know the symptoms of phenylketonuria and who is prone to it.Doctor's answer:
Phenylketonuria is a common amino acid metabolic disease. It is caused by a lack of enzymes in the phenylalanine catabolic pathway, where phenylalanine cannot be converted into tyrosine, leading to the accumulation of phenylalanine and its ketone bodies, which are excreted in large amounts in the urine. The main clinical manifestations include mental retardation, neuropsychiatric symptoms, eczema, skin scratch marks, depigmentation, a rat-like odor, and abnormal electroencephalogram. Timely dietary treatment can be expected to restore normalcy.