title: Combined liver-kidney transplant for the management of methylmalonic aciduria: a case report and review of the literature.
abstract: Over 27 cases of liver transplant, kidney transplant and combined liver-kidney transplant have been reported for the treatment of methylmalonic aciduria. We describe a case of a 5-year-old boy who underwent combined liver-kidney transplant (CLKT) for phenotypic mut0 disease. His history was notable for more than 30 hospitalizations for severe acidosis, metabolic strokes, liver disease, pancreatic disease, chronic renal insufficiency with interstitial nephritis, and decreased quality of life. Post-CLKT, there was a marked reduction in serum (80%) and urine MMA levels (90%) as well as a cessation of metabolic decompensations. Neurologic deterioration continued post-CKLT manifested as a cerebellar stroke. The clinical details and therapeutic implications of solid organ transplant for methylmalonic aciduria are discussed.
authors.affiliation: Department of Pediatrics, Mt. Sinai Medical Center, One Gustave L. Levy Place, New York, NY 10021, USA. peter.mcguire@mssm.edu
authors.forename: Peter J
authors.initials: PJ
authors.lastname: Mc Guire
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Lim-Melia
authors.forename: George A
authors.initials: GA
authors.lastname: Diaz
authors.forename: Kimiyo
authors.initials: K
authors.lastname: Raymond
authors.forename: Alexandra
authors.initials: A
authors.lastname: Larkin
authors.forename: Melissa P
authors.initials: MP
authors.lastname: Wasserstein
authors.forename: Claude
authors.initials: C
authors.lastname: Sansaricq
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications / Q000628:therapy*; D002675:Child, Preschool; D002658:Developmental Disabilities / Q000209:etiology; D006801:Humans; D016030:Kidney Transplantation; D008052:Lipid Metabolism, Inborn Errors / Q000150:complications / Q000628:therapy*; D016031:Liver Transplantation / Q000534:rehabilitation; D008297:Male; D008764:Methylmalonic Acid / Q000652:urine
chemical_list: D008764:Methylmalonic Acid