Patient's question:
On the day of birth, pneumonia was detected after which a genetic metabolic disease, hyperornithinemia, was found. Currently in the hospital, the symptoms are slow response.Doctor's answer:
Newborn screening shows high citrulline levels, but it cannot be definitively diagnosed as citrullinemia. It cannot be confirmed. It is recommended to check organic acid analysis at the Capital Institute of Pediatrics. It is possible that only they can perform this test nationwide. The results will likely take about a month to be available. The child is at risk of newborn diseases, so the family must take the child to seek medical treatment immediately. Avoid using blind medication to alleviate symptoms. For parents, it is important to promptly monitor the child's condition and do their best to help the child receive timely treatment for the disease.