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Abstract: A child who just turned 1 year old was recently drowsy, with yellow and thinning hair and a more pronounced urine odor due to low milk intake. The parents brought him to the hospital for examination, and the test results showed that the child had a high phenylalanine level, which was initially diagnosed as phenylketonuria, or phenylketonuria. After a period of treatment with a low-phenylalanine diet, the child’s symptoms improved and his condition was controlled and stable.
Basic information】Male, 1 year old
Disease Type】Phenylketonuria
Hospital】Shanghai Sixth People’s Hospital
Date of Consultation】February 2021
Treatment plan】Dietary therapy (low phenylalanine diet)
Treatment Period】Reviewed after 1 month of outpatient treatment
Effectiveness】Symptoms gradually improved and the condition was stable.
I. Initial consultation
The child had recently eaten less, was usually drowsy, had yellowish hair and apparently thinning hair, and had a distinct urine odor. The child was then given a detailed physical examination. The child had a pale complexion, slightly weak muscle tone, and a heavy sweat odor. The child was given a tandem mass spectrometry examination, which showed high CIT/PHE values, high C4DC+C5OH levels, and high C0/(C16+C18) levels, and the child was considered to have a possible metabolic disease. The parents were slightly anxious, saying that all aspects of the fetal examination were normal during pregnancy, and they were worried that the results were wrong. They then arranged a blood phenylalanine measurement for the child, which indicated an elevated phenylalanine level of 160 μmol/L and a preliminary diagnosis of phenylketonuria.
II. Treatment history
Since the child was small, dietary treatment was considered. The parents were instructed to choose formula with low phenylalanine content for the child, and to reduce the intake of protein-based foods in supplementary food and increase the intake of vegetables and fruits to obtain nutrition from them. Regular testing of blood phenylalanine (PHE) concentrations may require a long-term low-phenylalanine diet if more optimal control is to be achieved.
III. Treatment effect
One month after the dietary adjustment, the parents brought the child back to the clinic for a review, which showed that the phenylalanine level returned to the normal range. The child’s appetite was restored and his eating and milk consumption were significantly better than before. On examination, the child’s muscle strength and muscle tone of the limbs increased and returned to normal, his complexion regained its redness, the odor of urine was reduced, and his drowsiness improved.
IV. Notes
We are glad that the child’s symptoms have improved and the blood phenylalanine level is basically stable after the standard dietary adjustment. However, parents should be reminded that the child needs a long-term low-phenylalanine diet, regular testing of blood phenylalanine levels, and prompt consultation and treatment for any abnormalities in the child. Because of the reduced phenylalanine intake in the child’s daily diet, the child’s neurointellectual development needs to be closely monitored, and if abnormalities are detected, the child needs to be seen in a timely manner and treatment should be actively started to avoid delays.
V. Personal insight
This child has phenylketonuria, which is mainly due to the abnormal metabolism of the body, and it is a genetic metabolic disease, which has a great impact on the growth and development of the child. In addition, it is important to do a good pregnancy test or screening for related diseases during pregnancy, and medical professionals need to strengthen the popularization of science, so that the general public has a certain degree of medical knowledge to better prevent and identify diseases.