Elective liver transplantation for the treatment of classical maple syrup urine disease

Am J Transplant. 2006 Mar;6(3):557-64. doi: 10.1111/j.1600-6143.2005.01209.x.

Abstract

An 8.5-year-old girl with classical maple syrup urine disease (MSUD) required liver transplantation for hypervitaminosis A and was effectively cured of MSUD over an 8-year clinical follow-up period. We developed a collaborative multidisciplinary effort to evaluate the effects of elective liver transplantation in 10 additional children (age range 1.9-20.5 years) with classical MSUD. Patients were transplanted with whole cadaveric livers under a protocol designed to optimize safe pre- and post-transplant management of MSUD. All patients are alive and well with normal allograft function after 106 months of follow-up in the index patient and a median follow-up period of 14 months (range 4-18 months) in the 10 remaining patients. Leucine, isoleucine and valine levels stabilized within 6 hours post-transplant and remained so on an unrestricted protein intake in all patients. Metabolic cure was documented as a sustained increase in weight-adjusted leucine tolerance, normalization of plasma concentration relationships among branched-chain and other essential and nonessential amino acids, and metabolic and clinical stability during protein loading and intercurrent illnesses. Costs and risks associated with surgery and immune suppression were similar to other pediatric liver transplant populations.

Publication types

  • Case Reports
  • Comparative Study

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Elective Surgical Procedures / methods*
  • Female
  • Follow-Up Studies
  • Humans
  • Infant
  • Leucine / blood
  • Liver Transplantation*
  • Maple Syrup Urine Disease / blood
  • Maple Syrup Urine Disease / surgery*
  • Time Factors
  • Treatment Outcome

Substances

  • Leucine