|Title:||Stabilization of blood methylmalonic acid level in methylmalonic acidemia after liver transplantation||Authors:||Chen, P W
|Keywords:||methylmalonic acidemia; liver transplantation; methylmalonyl-CoA mutase; methylmalonic acid; propionyl-carnitine; dry blood spot||Issue Date:||May-2010||Publisher:||WILEY-BLACKWELL||Journal Volume:||14||Journal Issue:||3||Start page/Pages:||337||Source:||Pediatric transplantation||Abstract:||
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.
|Appears in Collections:||醫學系|
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