title: Early Liver Transplantation for Neonatal-Onset Methylmalonic Acidemia.
abstract: With conventional dietary treatment, the clinical course of methylmalonic acidemia due to cobalamin-unresponsive methylmalonyl-CoA mutase (MCM) deficiency is characterized by the persistent risk of recurrent life-threatening decompensation episodes with metabolic acidosis, hyperammonemia, and coma. Liver transplant has been proposed as an alternative treatment and anecdotally attempted in the last 2 decades with inconsistent results. Most criticisms of this approach have been directed at the continuing risk of neurologic and renal damage after transplant. Here, we report the perioperative and postoperative clinical and biochemical outcomes of 2 patients with severe MCM deficiency who underwent early liver transplant. In both cases, liver transplant allowed prevention of decompensation episodes, normalization of dietary protein intake, and a marked improvement of quality of life. No serious complications have been observed at 12 years' and 2 years' follow-up, respectively, except for mild kidney function impairment in the older patient. On the basis of our experience, we strongly suggest that liver transplant should be offered as a therapeutic option for children with cobalamin-unresponsive MCM deficiency at an early stage of the disease.
authors.affiliation: Department of Pediatrics.
authors.forename: Marco
authors.initials: M
authors.lastname: Spada
authors.affiliation: Department of Pediatrics.
authors.forename: Pier Luigi
authors.initials: PL
authors.lastname: Calvo
authors.affiliation: Liver Transplant Center, General Surgery 2U, and.
authors.forename: Andrea
authors.initials: A
authors.lastname: Brunati
authors.affiliation: Nephrology, Dialysis and Transplantation Unit, Regina Margherita Hospital, Turin, Italy.
authors.forename: Licia
authors.initials: L
authors.lastname: Peruzzi
authors.affiliation: Regional Transplant Center, University of Torino, Turin, Italy; and.
authors.forename: Dominic
authors.initials: D
authors.lastname: Dell'Olio
authors.affiliation: Liver Transplant Center, General Surgery 2U, and.
authors.forename: Renato
authors.initials: R
authors.lastname: Romagnoli
authors.affiliation: Department of Pediatrics, porta.franc@gmail.com.
authors.forename: Francesco
authors.initials: F
authors.lastname: Porta
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000097:blood / Q000601:surgery*; D006801:Humans; D007231:Infant, Newborn; D016031:Liver Transplantation / Q000379:methods*; D008297:Male; D008764:Methylmalonic Acid / Q000097:blood*; D013997:Time Factors
chemical_list: D008764:Methylmalonic Acid