Patient's question:
At home, we have a newborn baby. The past two days, we went to the hospital for blood tests to conduct a thorough examination. The hospital said the child suffers from phenylketonuria. Now the child experiences daily nausea and vomiting, small red bumps on the face, and also bumps on the scalp. The bumps contain white pus. Additionally, the child cries a lot.What kind of help is needed: How is phenylketonuria diagnosed?
Doctor's answer:
Phenylketonuria (PKU) is a common amino acid metabolic disorder caused by a deficiency of enzymes in the phenylalanine (PA) catabolic 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. This condition is relatively common among hereditary amino acid metabolic disorders and follows an autosomal recessive pattern of inheritance. A low-phenylalanine diet is recommended, and during the treatment of phenylalanine restriction, tyrosine can be supplemented or used as a substitute in the diet. The goal is to maintain the phenylalanine concentration in the child's blood at a level close to that of normal individuals, typically 1–3 mg/dL.