van 't Hoff W G, Dixon M, Taylor J, Mistry P, Rolles K, Rees L, Leonard J V
Renal Unit, Great Ormond Street Hospital for Children, London, U.K.
J Pediatr. 1998 Jun;132(6):1043-4. doi: 10.1016/s0022-3476(98)70407-x.
A 13-year-old boy with non-B12-responsive methylmalonic acidemia (MMA) had chronic renal failure. Hemodialysis led to symptomatic and biochemical improvement. He subsequently received a combined liver-kidney transplant. After 16 months of follow-up he has a normal lifestyle and a marked reduction in plasma and urine methylmalonate.
一名患有非维生素B12反应性甲基丙二酸血症(MMA)的13岁男孩出现了慢性肾衰竭。血液透析使症状和生化指标得到改善。他随后接受了肝肾联合移植。经过16个月的随访,他的生活方式正常,血浆和尿中的甲基丙二酸显著减少。