Patient's question:
Doctor, today I received a notification about newborn disease screening, saying that my baby's phenylketonuria test data is 2.3, which is below the normal range. Is newborn disease screening accurate?Doctor's answer:
Phenylketonuria is a hereditary amino acid metabolic disease.1. Phenylketonuria is a hereditary amino acid metabolic disease, commonly inherited in an autosomal recessive, manner.
2. If it is not diagnosed early and early intervention is not implemented, it will affect the child's growth and development, intelligence, and may lead to recurrent convulsions, etc.; therefore, it cannot wait until the full moon;
3. Immediately re-examine the child threatened by neonatal diseases. Therefore, parents must take their child to the hospital for timely treatment to avoid various misunderstandings. Symptomatic treatment should be administered promptly. For parents, it is essential to closely monitor the child's condition and do their best to help the child receive timely treatment for the disease.