Massoud A F, Leonard J V
Medical Unit, Institute of Child Health, London, United Kingdom.
Eur J Pediatr. 1993 May;152(5):441-5. doi: 10.1007/BF01955907.
Following the death of a patient with propionic acidaemia with a cardiomyopathy we reviewed 19 patients with the same disorder for evidence of cardiomyopathy. Six patients were found to meet the diagnostic criteria. Three patients died and in the other three the cardiac disease resolved completely. All patients were treated with standard therapy and some received L-carnitine but this did not seem to influence the eventual outcome. Cardiomyopathy is an important complication of propionic acidaemia and may be rapidly fatal.
在一名患有丙酸血症合并心肌病的患者死亡后，我们对另外19名患有相同疾病的患者进行了检查，以寻找心肌病的证据。发现有6名患者符合诊断标准。3名患者死亡，另外3名患者的心脏病完全康复。所有患者均接受了标准治疗，一些患者还接受了L-肉碱治疗，但这似乎并未影响最终结果。心肌病是丙酸血症的一种重要并发症，可能会迅速致命。
