Introduction to basic knowledge of neonatal phenylketonuria

What are the clinical manifestations of neonatal phenylketonuria?

1. As a recessive genetic disease, infants with neonatal phenylketonuria are not much different from normal infants at birth. It is only possible that some newborns with phenylketonuria have difficulty in feeding and disturbed sleep., It is difficult to be associated with neonatal phenylketonuria.

2. If we don't have any problems to analyze, the disease screening of neonatal patients leads to the failure of timely research, discovery and treatment of the life of Chinese neonatal phenylketonuria children, then after a few months, the baby's intellectual development will begin to lag behind that of the same month, the hair color will also change from black to yellow, the skin will turn white, and the body fluid will have rat urine odor, In addition, there will be symptoms of eczema.

3. With the increase of age, newborns with phenylketonuria will have more and more obvious mental retardation. Severe mental retardation and epilepsy are the characteristics of newborns with phenylketonuria.

How can neonatal phenylketonuria be treated effectively?

Low phenylalanine diet therapy is the most effective method for the treatment of neonatal phenylketonuria. If the baby is diagnosed with neonatal phenylketonuria, the diet should be strictly controlled to avoid protein intake, and early rehabilitation intervention should be paid attention to.

2. It is necessary to choose a special food for neonatal phenylketonuria to avoid the aggravation of the patient's condition caused by some wrong eating of unsuitable food.

3. The diet of infants should be adjusted regularly. According to the different nutrition of infants at different stages, a reasonable diet should be adopted to balance the nutrition of infants, so as to provide necessary guarantee for the treatment of neonatal phenylketonuria.

Neonatal phenylketonuria is a common chromosomal genetic disease. Due to its early concealment, many new parents fail to notice the disease in time. Therefore, it is necessary to screen neonatal diseases.