Patient's question:
Since the beginning of this month, my child has been unable to take in milk, constantly vomiting, and has been crying a lot. I searched online and found that the symptoms are quite similar to those of mild phenylketonuria. I bought some medicine from a pharmacy to take, and initially it improved, but later it started to fluctuate again, getting better and worse. I plan to take my child to the hospital for a thorough check-up. What are the treatment methods for mild phenylketonuria?Doctor's answer:
Phenylketonuria is a common amino acid metabolic disease 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 quantities in the urine. Clinical diagnosis primarily manifests as intellectual disability, recurrent seizures, and hyperpigmentation. It is an autosomal recessive inherited disorder. If diagnosed, active treatment should be initiated as early as possible, primarily through dietary therapy. The earlier treatment begins, the better the outcome.