Patient's question:
The newborn's heel blood methylmalonyl carnitine level is elevated to 11, and C12 is also abnormally high. The hospital has notified a re-examination of the blood and urine, and the results are pending. I want to ask if the chance of a confirmed diagnosis is high now. The child is 20 days old and everything is normal, feeding well, and can hold their head up for a few seconds.Doctor's answer:
The value of carnitine propionyl is 1.14, indicating it may be due to multiple carboxylase defects and can be used for the analysis of organic acids in urine. Based on experience, there should be no problem. The free carnitine value of 61.28 has no special significance, so there is no need to worry for the time being. Currently, the number of laboratory tests can be inoculated, but without a clear diagnosis, drug treatment is not considered. Currently, tandem mass spectrometry and urine organic acid analysis need to be continuously reviewed, and genetic analysis can be performed when necessary. If conditions permit, direct genetic analysis can be conducted.