Patient's question:
My baby has recently been experiencing very yellow urine, and every time they go to the bathroom, they cry painfully. The hospital diagnosed phenylketonuria. I want to know what's going on?Doctor's answer:
Phenylketonuria (PKU) is a common amino acid metabolic disorder caused by a deficiency of enzymes in the phenylalanine degradation pathway, which prevents phenylalanine from being converted into tyrosine. This leads to the accumulation of phenylalanine and its ketone bodies, which are excreted in large amounts in the urine. The clinical presentation is heterogeneous, with the main diagnostic features including intellectual disability, neurological symptoms, eczema, skin scratch marks, depigmentation, and a mouse-like odor, as well as abnormal electroencephalogram (EEG) findings. Timely dietary treatment offers the hope of complete recovery.