title: Stabilization of blood methylmalonic acid level in methylmalonic acidemia after liver 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.
authors.affiliation: Department of Medical Genetics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan.
authors.forename: P W
authors.initials: PW
authors.lastname: Chen
authors.forename: W L
authors.initials: WL
authors.lastname: Hwu
authors.forename: M C
authors.initials: MC
authors.lastname: Ho
authors.forename: N C
authors.initials: NC
authors.lastname: Lee
authors.forename: Y H
authors.initials: YH
authors.lastname: Chien
authors.forename: Y H
authors.initials: YH
authors.lastname: Ni
authors.forename: P H
authors.initials: PH
authors.lastname: Lee
mesh_terms: D002331:Carnitine / Q000031:analogs & derivatives / Q000097:blood; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D016031:Liver Transplantation; D008297:Male; D008661:Metabolism, Inborn Errors / Q000201:enzymology / Q000601:surgery*; D008764:Methylmalonic Acid / Q000097:blood*; D008765:Methylmalonyl-CoA Mutase
chemical_list: C003223:propionylcarnitine; D008764:Methylmalonic Acid; D008765:Methylmalonyl-CoA Mutase; D002331:Carnitine