Patient's question:
The other day, my son had a blood test. The test results indicated that he might have phenylketonuria. I would like to know how many people with phenylketonuria have normal conditions?Doctor's answer:
Phenylketonuria is a genetic disease. It is caused by a deficiency of enzymes in the phenylalanine degradation pathway, which blocks the conversion of phenylalanine to tyrosine. It leads to the accumulation of phenylalanine and its ketones, as well as a large amount of metabolic byproducts of phenylalanine and ketones in the urine. The main manifestations include mental retardation, recurrent seizures, and increased pigmentation. The normal concentration of phenylalanine in normal human blood is 1-3 mg/dL, and the normal value for newborn phenylketonuria screening should be less than 1.2 mmol/L (20 mg/dL). Newborn ketonuria is a congenital metabolic disease and an autosomal recessive genetic disease. If effective measures are not taken in a timely manner, a child's intelligence may be impaired, and they may develop dementia.