Heterozygote to homozygote related living donor liver transplantation in maple syrup urine disease: A case report

Pediatric Transplantation

Volumn 19, Issue 3, 2015, Pages E62-E65

  Patel, N ^a   Loveland, J ^a,b   Zuckerman, M ^b   Moshesh, P ^b   Britz, R ^b   Botha, J ^b  

^a UNIVERSITY OF THE WITWATERSRAND   (South Africa)

^b University of the Witwatersrand   (South Africa)

Author keywords

liver; liver transplantation; living donor

Indexed keywords

AMINO ACID; ISOLEUCINE; LEUCINE; VALINE;

ACUTE GRAFT REJECTION; AMINO ACID BLOOD LEVEL; ARTICLE; BRADYCARDIA; CASE REPORT; CHILD; DEHYDRATION; HETEROZYGOTE; HOMOZYGOTE; HOSPITAL ADMISSION; HUMAN; JAUNDICE; LIVER GRAFT; LIVER TRANSPLANTATION; LIVING DONOR; LIVING DONOR LIVER TRANSPLANTATION; LOWER RESPIRATORY TRACT INFECTION; MALE; MAPLE SYRUP URINE DISEASE; METABOLIC STRESS; PHYSIOLOGICAL STRESS; POSTOPERATIVE PERIOD; PRESCHOOL CHILD; PROTEIN DIET; PROTEIN INTAKE; SOMNOLENCE; TACHYPNEA; WEIGHT REDUCTION; ALLOTRANSPLANTATION; FEMALE; GENETICS; MOTHER; PROCEDURES; TREATMENT OUTCOME;

CHILD, PRESCHOOL; FEMALE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; LIVER TRANSPLANTATION; LIVING DONORS; MALE; MAPLE SYRUP URINE DISEASE; MOTHERS; TRANSPLANTATION, HOMOLOGOUS; TREATMENT OUTCOME;

EID: 84925878803     PISSN: 13973142     EISSN: 13993046     Source Type: Journal    
DOI: 10.1111/petr.12439     Document Type: Article

References (16)

1. Chuang DT, Ku LS, Kerr DS, Cox RP,. Detection of heterozygotes in maple-syrup-urine disease: Measurements of branched-chain alpha-ketoacid dehydrogenase and its components in cell cultures. Am J Hum Genet 1982: 34: 416.
2. Nellis MM, Danner DJ,. Gene preference in maple syrup urine disease. Am J Hum Genet 2001: 68: 232-237.
3. Gorzelany K, Dursun A, Coşkun T, et al. Molecular genetics of maple syrup urine disease in the Turkish population. Turk J Pediatr 2009: 51: 97-102.
4. Simon E, Wendel U, Schadewaldt P,. Maple syrup urine disease-treatment and outcomes in patients of Turkish descent in Germany. Turk J Pediatr 2005: 47: 8-13.
5. Skvorak KJ, Paul HS, Dorko K, et al. Hepatocyte transplantation improves phenotype and extends survival in a murine model of intermediate maple syrup urine disease. Mol Ther 2009: 17: 1266-1273.
6. Mazariegos GV, Morton DH, Sindhi R, et al. Liver transplantation for classical maple syrup urine disease: Long-term follow-up in 37 patients and comparative united network for organ sharing experience. J Pediatr 2012: 160: 116-121.
7. Chuang DT, Chuang JL, Wynn RM,. Lessons from genetic disorders of branched-chain amino acid metabolism. J Nutr 2006: 136: 243S-249S.
8. Strauss KA, Mazariegos GV, Sindhi R, et al. Elective liver transplantation for the treatment of classical maple syrup urine disease. Am J Transplant 2006: 6: 557-564.
9. Morton HD, Strauss KA,. Liver transplantation for maple syrup urine disease: Our perspective as pediatricians. MSUD Fam Supp Newsl 2005: 22: 1-3.
10. Shellmer DA, Dabbs AD, Dew MA, et al. Cognitive and adaptive functioning after liver transplantation for maple syrup urine disease: A case series. Pediatr Transplant 2011: 15: 58-64.
11. Chuang JL, Wynn RM, Moss CC, et al. Structural and biochemical basis for novel mutations in homozygous Israeli maple syrup urine disease patients: A proposed mechanism for the thiamin-responsive phenotype. J Biol Chem 2004: 279: 17792-17800.
12. Menkes JH, Hurst PL, Craig JM,. A new syndrome: Progressive familial infantile cerebral dysfunction with an unusual urinary substance. Pediatrics 1954: 14: 462 ? 466.
13. Edelmann L, Wasserstein MP, Kornreich R, Sansaricq C, Snyderman SE, Diaz GA,. Maple syrup urine disease: Identification and carrier frequency, determination of a novel mutation in the Ashkenazi Jewish population. Am J Hum Genet 2001: 69: 863-868.
14. Popescu I, Dima SO,. Domino liver transplantation: How far can we push the paradigm? Liver Transpl 2012: 18: 22-28.
15. Khanna A, Hart M, Nyhan WL, Hassanein T, Panyard-Davis J, Barshop BA,. Domino liver transplantation in maple syrup urine disease. Liver Transpl 2006: 12: 876-882.
16. Feier HH, Miura IK, Fonseca EA, et al. Successful domino liver transplantation in maple syrup urine disease using a related living donor. Braz J Med Biol Res 2014: 47: 522-526.