title: Liver transplantation for classical maple syrup urine disease: long-term follow-up in 37 patients and comparative United Network for Organ Sharing experience.
abstract: OBJECTIVE
  To assess clinical and neurocognitive function in children who have undergone liver transplantation for classical maple syrup urine disease (MSUD).
  
  
  METHODS
  A total of 35 patients with classical MSUD (age 9.9 ± 7.9 years) underwent liver transplantation between 2004 and 2009. Six patients donated their liver to recipients without MSUD ("domino" transplant). We analyzed clinical outcomes for our cohort and 17 additional cases from the national United Network for Organ Sharing registry; 33 patients completed IQ and adaptive testing before transplantation, and 14 completed testing 1 year later.
  
  
  RESULTS
  Patient and graft survival were 100% at 4.5 ± 2.2 years of follow-up. Liver function was normal in all patients. Branched-chain amino acid levels were corrected within hours after surgery and remained stable, with leucine tolerance increasing more than 10-fold. All domino transplant recipients were alive and well with normal branched-chain amino acid homeostasis at the time of this report. Patient and graft survival for all 54 patients with MSUD undergoing liver transplantation in the United States during this period were 98% and 96%, respectively. One-third of our patients were mentally impaired (IQ ≤ 70) before transplantation, with no statistically significant change 1 year later.
  
  
  CONCLUSIONS
  Liver transplantation is an effective long-term treatment for classical MSUD and may arrest brain damage, but will not reverse it.
authors.affiliation: University of Pittsburgh Medical Center, Pittsburgh, PA, USA. george.mazariegos@chp.edu
authors.forename: George V
authors.initials: GV
authors.lastname: Mazariegos
authors.forename: D Holmes
authors.initials: DH
authors.lastname: Morton
authors.forename: Rakesh
authors.initials: R
authors.lastname: Sindhi
authors.forename: Kyle
authors.initials: K
authors.lastname: Soltys
authors.forename: Navdeep
authors.initials: N
authors.lastname: Nayyar
authors.forename: Geoffrey
authors.initials: G
authors.lastname: Bond
authors.forename: Diana
authors.initials: D
authors.lastname: Shellmer
authors.forename: Benjamin
authors.initials: B
authors.lastname: Shneider
authors.forename: Jerry
authors.initials: J
authors.lastname: Vockley
authors.forename: Kevin A
authors.initials: KA
authors.lastname: Strauss
mesh_terms: D002648:Child; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D016031:Liver Transplantation; D008297:Male; D008375:Maple Syrup Urine Disease / Q000601:surgery*; D013997:Time Factors; D009927:Tissue and Organ Procurement / Q000379:methods