History of phenylketonuria
In 1934, a mother told Dr. Flynn in Norway that her maternal pku a special smell, which prompted Dr. Flynn to conduct a detailed examination of the two children and found that their urine contained a substance called Phenylpyruvate, which is why we now call phenylketonuria.
In China, about one child in every 11000 newborns suffers from phenylketonuria, and about 1000-1300 children are born every year.
Phenylketonuria in children
Phenylketonuria (PKU) is a common amino acid metabolic disease. Due to the enzyme defect in the main pathway of phenylalanine (PA) metabolism, phenylalanine can not be transformed into a tyrosine, resulting in the accumulation of phenylalanine and its keto acid, which is excreted from a large amount of enterprises in the urine. It is a systematic and common autosomal recessive cultural genetic basic disease. Both parents have different chromosome defects, but there are no clinical symptoms. The children of close relatives married have a high incidence.
Symptoms of phenylketonuria
Generally, it occurs 3-6 months after birth, and the condition gradually worsens. The main symptom is that the patient's intelligence gradually decreases, and even dementia
How to diagnose phenylketonuria?
Screening is best performed 3 days after birth for breastfeeding. Further phenylketonuria and typing tests confirm that the screening result is positive. If the child has no symptoms such as yellow hair and sweat, the doctor should take the child to the doctor for screening. If the child has no symptoms such as yellow hair and sweat during the development period, he should take the child to the doctor.
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