Chen P.W.WUH-LIANG HWUMING-CHIH HONI-CHUNG LEEYIN-HSIU CHIENYEN-HSUAN NIPO-HUANG LEE2020-12-282020-12-2820101397-3142https://www.scopus.com/inward/record.uri?eid=2-s2.0-77950680261&doi=10.1111%2fj.1399-3046.2009.01227.x&partnerID=40&md5=61d7135596ba18c0e78034e16a794047https://scholars.lib.ntu.edu.tw/handle/123456789/534186Methylmalonic acidemia with complete mutase deficiency (mut0 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 mut0 patients. The results revealed that when C3-carnitine rose during metabolic stress, MMA rose exponentially (up to 1000 μmol/L) in patients who did not undergo LT. In patients who underwent LT, MMA rose to 100-200 μmol/L when C3-carnitine reached 10-20 μmol/L. However, when C3-carnitine rose further to 40-50 μmol/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. ? 2009 John Wiley & Sons A/S.[SDGs]SDG3methylmalonic acid; propionylcarnitine; carnitine; methylmalonic acid; methylmalonyl coenzyme A mutase; propionylcarnitine; article; blood level; child; clinical article; controlled study; disease marker; female; human; infant; liver transplantation; long term care; male; metabolic stress; methylmalonic acidemia; molecular stability; newborn; newborn screening; organ donor; patient monitoring; plasma clearance; preschool child; prognosis; protein intake; school child; treatment duration; treatment outcome; analogs and derivatives; blood; enzymology; Metabolism, Inborn Errors; Carnitine; Child; Child, Preschool; Female; Humans; Infant; Liver Transplantation; Male; Metabolism, Inborn Errors; Methylmalonic Acid; Methylmalonyl-CoA Mutasejournal article10.1111/j.1399-3046.2009.01227.x196863002-s2.0-77950680261