Question
My baby has been experiencing very yellow urine recently and cries in pain every time they go to the bathroom. The hospital diagnosed them with phenylketonuria. I want to know what this is about?
Answer
Phenylketonuria is a common amino acid metabolic disorder caused by enzyme defects in the phenylalanine degradation pathway. This prevents phenylalanine from being converted into tyrosine, leading to the accumulation of phenylalanine and its ketones, which are then excreted in large amounts in the urine. Clinical presentations can vary, with primary diagnostic features including intellectual disability, neurological symptoms, eczema, skin scratching signs, hypopigmentation, and a mouse-like odor, as well as abnormal electroencephalograms. Timely dietary treatment holds the hope for complete recovery.