肝移植后甲基丙二酸血症患者血液中甲基丙二酸水平的稳定情况。
Stabilization of blood methylmalonic acid level in methylmalonic acidemia after liver transplantation.
作者信息
Chen P W, Hwu W L, Ho M C, Lee N C, Chien Y H, Ni Y H, Lee P H
机构信息
Department of Medical Genetics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan.
出版信息
Pediatr Transplant. 2010 May;14(3):337-41. doi: 10.1111/j.1399-3046.2009.01227.x. Epub 2009 Aug 14.
Methylmalonic acidemia with complete mutase deficiency (mut(0) type) is an inborn error of metabolism with high mortality and morbidity. LT has been suggested to be a solution to this disease, but elevation of urinary and blood MMA was still observed after LT. In this study, we measured dry blood spot MMA and its precursor propionyl-carnitine (C3-carnitine) for mut(0) patients. The results revealed that when C3-carnitine rose during metabolic stress, MMA rose exponentially (up to 1000 micromol/L) in patients who did not undergo LT. In patients who underwent LT, MMA rose to 100-200 micromol/L when C3-carnitine reached 10-20 micromol/L. However, when C3-carnitine rose further to 40-50 micromol/L, MMA levels just stayed put. Therefore, LT stabilized blood MMA level, though there might be a threshold for blood MMA clearance by the donor liver. This finding should be critical to understand the long-term outcome for LT in methylmalonic acidemia.
伴有完全变位酶缺乏（mut(0)型）的甲基丙二酸血症是一种死亡率和发病率都很高的先天性代谢缺陷病。肝移植（LT）被认为是治疗这种疾病的一种方法，但肝移植后仍观察到尿和血中甲基丙二酸（MMA）升高。在本研究中，我们检测了mut(0)型患者的干血斑MMA及其前体丙酰肉碱（C3-肉碱）。结果显示，在未接受肝移植的患者中，当代谢应激期间C3-肉碱升高时，MMA呈指数级升高（高达1000微摩尔/升）。在接受肝移植的患者中，当C3-肉碱达到10-20微摩尔/升时，MMA升至100-200微摩尔/升。然而，当C3-肉碱进一步升至40-50微摩尔/升时，MMA水平保持不变。因此，肝移植稳定了血MMA水平，尽管供体肝脏清除血MMA可能存在一个阈值。这一发现对于理解甲基丙二酸血症肝移植的长期预后至关重要。
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