Division of Human Genetics, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH, USA.
J Pediatr. 2011 Nov;159(5):862-4. doi: 10.1016/j.jpeds.2011.06.005. Epub 2011 Jul 23.
Methylmalonic acidemia (MMA) is a heterogeneous disorder, with onset from infancy to adulthood and varying degrees of organ involvement and severity. Cardiac disease is a known lethal complication of other organic acidemias, but has not been associated with MMA. We identified 3 patients with MMA and cardiac disease.
甲基丙二酸血症(MMA)是一种异质性疾病,可在婴儿期至成年期发病,且受累器官和严重程度不一。心脏疾病是其他有机酸血症的已知致死性并发症,但与 MMA 无关。我们发现了 3 例 MMA 合并心脏疾病的患者。