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Successful Domino Liver Transplantation from a Patient with Methylmalonic Acidemia

  • A. Khanna
  • R. Gish
  • S. C. Winter
  • W. L. Nyhan
  • B. A. BarshopEmail author
Research Report
Part of the JIMD Reports book series (JIMD, volume 25)

Abstract

Liver transplantation has been reported in patients with methylmalonic acidemia (MMA), but long-term outcome is controversial. Many patients with other approved indications for liver transplantation die before donor grafts are available. A 28-year-old man with MMA underwent cadaveric liver transplantation. His liver was used as a domino graft for a 61-year-old man with primary sclerosing cholangitis, who had low priority on the transplant waiting list. Surgical outcome was successful, and after transplantation both patients have excellent graft function. The patient with MMA showed substantial decrease in methylmalonate in urine (from 5,277 ± 1,968 preoperatively to 1,068 ± 384 mmol/mol creatinine) and plasma (from 445.9 ± 257.0 to 333.3 ± 117.7 μmol/l) over >1-year follow-up, while dietary protein intake increased from 0.6 to 1.36 ± 0.33 g/kg/day. The domino recipient maintained near-normal levels of plasma amino acids but did develop elevated methylmalonate in blood and urine while receiving an unrestricted diet (peak plasma methylmalonate 119 μmol/l and urine methylmalonate 84–209 mmol/mol creatinine, with 1.0–1.9 g/kg/day protein). Neither patient demonstrated any apparent symptoms of MMA or metabolic decompensation during the postoperative period or following discharge.

Conclusion: Liver transplantation substantially corrects methylmalonate metabolism in MMA and greatly attenuates the disease. In this single patient experience, a liver from a patient with MMA functioned well as domino graft although it did result in subclinical methylmalonic acidemia and aciduria in the recipient. Patients with MMA can be considered as domino liver donors for patients who might otherwise spend long times waiting for liver transplantation.

Keywords

Primary Sclerosing Cholangitis Familial Hypercholesterolemia Familial Hypercholesterolemia Maple Syrup Urine Disease Maple Syrup Urine Disease 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Notes

Acknowledgments

Supported in part by the National Institutes of Health Grants UL1TR000100 (BAB, WLN). We thank Dr. Grace Lin for the preparation and analysis of the histologic samples and Jon Gangoiti for the organic acid and acylcarnitine analyses.

Preliminary results from this study were presented orally at the Society for the Study of Inborn Errors of Metabolism Annual Symposium in Birmingham, England, 5 September, 2012.

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Copyright information

© SSIEM and Springer-Verlag Berlin Heidelberg 2015

Authors and Affiliations

  • A. Khanna
    • 1
  • R. Gish
    • 2
  • S. C. Winter
    • 3
  • W. L. Nyhan
    • 4
  • B. A. Barshop
    • 4
    Email author
  1. 1.Department of Surgery and Center for Gut Rehabilitation and TransplantationTransplant Center, Cleveland ClinicClevelandUSA
  2. 2.Department of GastroenterologyStanford UniversityPalo AltoUSA
  3. 3.Department of GeneticsChildren’s Hospital of Central CaliforniaMaderaUSA
  4. 4.Department of PediatricsUniversity of California San Diego and Rady Children’s HospitalSan DiegoUSA

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