Living donor liver transplantation for Type II citrullinemia from a heterozygous donor

Hepato-Gastroenterology

Volumn 55, Issue 88, 2008, Pages 2211-2216

  Hirai, Ichiro ^a   Kimura, Wataru ^a   Suto, Koichi ^a   Fujimoto, Hiroto ^a   Watanabe, Toshihiro ^a   Fuse, Akira ^a   Kobayashi, Keiko ^b   Iijima, Mikio ^b   Saheki, Takeyori ^b   Nakatsuka, Takashi ^c   Sugawara, Yasuhiko ^d   Makuuchi, Masatoshi ^d  

^a YAMAGATA UNIVERSITY   (Japan)

^b KAGOSHIMA UNIVERSITY   (Japan)

^c SAITAMA MEDICAL UNIVERSITY   (Japan)

^d UNIVERSITY OF TOKYO   (Japan)

Author keywords

Cryopreserved vein graft; Heterozygous donor; Hyperammonemia; Living donor liver transplantation; Type II citrullinemia

Indexed keywords

AMMONIA; APROTININ; ARGININE; BRANCHED CHAIN AMINO ACID; CARRIER PROTEIN; CITRULLINE; DNA; ERIODICTYOL 7 O GLUCOSIDE; GANCICLOVIR; GLYCEROL; LACTULOSE; SERINE; STEROID; TACROLIMUS; THREONINE; UNCLASSIFIED DRUG; UREA;

ABNORMAL BEHAVIOR; ADULT; AMMONIA BLOOD LEVEL; ARTICLE; BLOOD ANALYSIS; CASE REPORT; CEREBROSPINAL FLUID ANALYSIS; CITRULLINEMIA; CONSCIOUSNESS DISORDER; CONSERVATIVE TREATMENT; CYTOMEGALOVIRUS; DNA DETERMINATION; DOPPLER ECHOGRAPHY; DRUG EFFICACY; DRUG WITHDRAWAL; EATING DISORDER; EPILEPSY; GENE MUTATION; GRAFT INFECTION; GRAFT RECIPIENT; HEPATIC ENCEPHALOPATHY; HETEROZYGOSITY; HOSPITAL ADMISSION; HOSPITAL DISCHARGE; HUMAN; HYPERAMMONEMIA; INSOMNIA; JAPANESE; LABORATORY TEST; LIVER BIOPSY; LIVER GRAFT; LIVER GRAFT REJECTION; LIVER TRANSPLANTATION; LIVING DONOR; MALE; MEDICAL DECISION MAKING; NUCLEAR MAGNETIC RESONANCE IMAGING; POSTOPERATIVE PERIOD; PRIORITY JOURNAL; PROGNOSIS; PROTEIN EXPRESSION; SIBLING; SYMPTOM; TREATMENT OUTCOME; UREA CYCLE; WESTERN BLOTTING;

ADMINISTRATION, ORAL; AMINO ACIDS, BRANCHED-CHAIN; ARGININE; BLOTTING, WESTERN; CITRULLINEMIA; COMBINED MODALITY THERAPY; DNA MUTATIONAL ANALYSIS; HEPATIC VEINS; HUMANS; INFUSIONS, INTRAVENOUS; LIVER TRANSPLANTATION; LIVING DONORS; MALE; MIDDLE AGED; VASCULAR SURGICAL PROCEDURES;

EID: 60849116714     PISSN: 01726390     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (29)

1. Kobayashi K, Shaheen N, Kumashiro B, Tanikawa K, O'Brien WE, Beaudet AL, Saheki T: A search for the primary abnormality in adult-onset type II citrullinemia. Am J Hum Genet 1993; 53: 1024-1030.
2. Saheki T, Kobayashi K, Iijima M, Nishi I, Yasuda T, Yamaguchi N, Gao HZ, Jalil MA, Begum L, Li MX: Pathogenesis and pathophysiology of citrin (a mitochondrial aspartate glutamate carrier) deficiency. Metab Brain Dis 2002; 17: 335-346.
3. Saheki T, Kobayashi K, Inoue I: Hereditary disorders of the urea cycle in man: Biochemical and molecular approaches. Rev Physiol Biochem Pharmacol 1987; 108: 21-68.
4. Ikeda S, Yazaki M, Takei Y, Ikegami T, Hashikura Y, Kawasaki S, Iwai M, Kobayashi K, Saheki T: Type II (adult onset) citrullinemia: clinical pictures and the therapeutic effect of liver transplantation. J Neurol Neurosurg Psychiatry 2001; 71: 663-670.
5. Takenaka K, Yasuda I, Araki H, Naito T, Fukutomi Y, Ohnishi H, Yamakita N, Hasegawa T, Sato H, Shimizu Y, Matsunami H, Moriwaki H: Type II citrullinemia in an elderly patient treated with living related partial liver transplantation. Intern Med 2000; 39: 553-558.
6. Makuuchi M, Kawasaki S, Noguchi T, Hashikura Y, Matsunami H, Hayashi K, Harada H, Kakazu T, Takayama T, Kawarasaki H: Donor hepatectomy for living related partial liver transplantation. Surgery 1993; 113: 395-402.
7. Belghiti J, Guevara OA, Noun R, Saldinger PF, Kianmanesh R: Liver hanging maneuver: a safe approach to right hepatectomy without liver mobilization. J Am Coll Surg 2001; 193: 109-111.
8. Imamura H, Takayama T, Sugawara Y, Kokudo N, Aoki T, Kaneko J, Matsuyama Y, Sano K, Maema A, Makuuchi M: Pringle's maneuver in living donors. Lancet 2002; 360: 2049-2050.
9. Kawasaki S, Hashikura Y, Matsunami H, Ikegami T, Nakazawa Y, Watanabe M, Iijima S, Makuuchi M: Temporary shunt between right portal vein and vena cava in living related liver transplantation. J Am Coll Surg 1996; 183: 74-76.
10. Jequier S, Jequier JC, Hanquinet S, Le Coultre C, Belli DC: Orthotopic liver transplants in children: change in hepatic venous Doppler wave pattern as an indicator of acute rejection. Radiology 2003; 226: 105-112.
11. Brusilow SW, Horwich AL: Urea cycle enzymes. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic and molecular bases of inherited disease. 7th ed. New York: McGraw-Hill Information Service Co., 1995: 1187-1232.
12. Kobayashi K, Sinasac DS, Iijima M, Boright AP, Begum L, Lee JR, Yasuda T, Ikeda S, Hirano B, Terazono H, Crackower MA, Kondo I, Tsui LC, Scherer SW, Saheki T: The gene mutated in adult-onset typeII citrullinemia encodes a putative mitochondrial carrier protein. Nat Genet 1999; 22:159-163.
13. Saheki T, Kobayashi K: Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD). J Hum Genet 2002; 47:333-341.
14. Tazawa Y, Kobayashi K, Ohura T, Abukawa D, Nishinomiya F, Hosoda Y, Yamashita M, Nagata I, Kono Y, Yasuda T, Yamaguchi N, Saheki T: Infantile cholestatic jaundice associated with adult-onset type II citrullinemia. J Pediatr 2001; 138:735-740.
15. Yazaki M, Takei Y, Kobayashi K, Saheki T, Ikeda S: Risk of worsened encephalopathy after intravenous glycerol therapy in patients with adult-onset type II citrullinemia (CTLN2). Intern Med 2005; 44:188-195.
16. Nakayama M, Okamoto Y, Morita T, Mataumoto M, Yamao J, Fukui H, Nakano H, Tsuji T: Study on hepatocarcinogenesis in hypercitrullinemia. Int Hepatology Commications 1993; 1:37-40.
17. Kobayashi K, Horiuchi M, Saheki T: Pancreatic secretory trypsin inhibitor as a diagnostic marker for adult-onset type II citrullinemia. Hepatology 1997; 25:1160-1165.
18. Kawamoto S, Strong RW, Kerlin P, Lynch SV, Steadman C, Kobayashi K, Nakagawa S, Matrunami H, Akatsu T, Saheki Y: Orthotopic liver transplantation for adult-onset type II citrullinemia. Clin Transplantation 1997; 11:453-458.
19. Morioka D, Takada Y, Kasahara M, Ito T, Uryuhara K, Ogawa K, Egawa H, Tanaka K: Living donor liver transplantation for noncirrhotic inheritable metabolic liver diseases: impact of the use of heterozygous donors. Transplantation 2005; 80:623-628.
20. Takashima Y, Koide M, Fukunaga H, Iwai M, Miura M, Yoneda R, Fukuda T, Kobayashi K, Saheki T: Recovery from marked altered consciousness in a patient with adult-onset type II citrullinemia diagnosed by DNA analysis and treated with a living related partial liver transplantation. Intern Med 2002; 41:555-560.
21. Yazaki M, Ikeda S, Takei Y, Yanagisawa N, Matsunami H, Hashikura Y, Kawasaki S, Makuuchi M, Kobayashi K, Saheki T: Complete neurological recovery of an adult patient with type II citrullinemia after living related partial liver transplantation. Transplantation 1996; 62:1679-1681.
22. Kasahara M, Ohwada S, Takeuclii T, Kaneko H, Tomomasa T, Morikawa A, Yonemura K, Asonuma K, Tanaka K, Kobayashi K, Saheki T, Takeyoshi I, Morishita Y: Living-related liver transplantation for type II citrullinemia using a graft from heterozygote donor. Transplamtation 2001; 71:157-159.
23. Morioka D, Kasahara M, Takada Y, Shirouzu Y, Taira K, Sakamoto S, Uryuhara K, Egawa H, Shimada H, Tanaka K: Current role of liver transplantation for the treatment of urea cycle disorders: a review of the worldwide English literature and 13 cases at Kyoto university. Liver Transpl 2005; 11:1332-1342.
24. Imamura Y, Kobayashi K, Shibatou T, Aburada S, Tahara K, Kubozono O, Saheki T: Effectiveness of carbohydrate-restricted diet and arginine granules therapy for adult-onset type II citrullinemia. A case report of siblings showing homozygous SLC25A13 mutation with and without the disease. Hepatol Res 2003; 26:68-72.
25. Todo S, Starzl TE, Tzakia A, Benkov KJ, Kalousek F, Saheki T, Tanikawa K, Fenton WA: Orthotopic liver transplantation for urea cycle enzyme deffciency. Hepatology 1992; 15:419-422.
26. Tamamori A, Okano Y, Ozaki H, Fujimoto A, Kajiwara M, Fukuda K, Kobayashi K, Saheki T, Tagami Y, Yamano T: Neonatal intrahepatic cholestasis caused by citrin deficiency: severe hepatic dysfunction in an infant requiring liver transplantation. Eur J Pediatr 2002; 161:609-613.
27. Kawata A, Suda M, Tanabe H: Adult-onset type II citrullinemia: clinical pictures before and after liver transplantation. Intern Med 1997; 36:408-412.
28. Yazaki M, Hashikura Y, Takei Y, Ikegami T, Miyagawa S, Yamamoto K, Tokuda T, Kobayashi K, Saheki T, Ikeda S: Feasibility of auxiliary partial orthotopic liver transplantation from living donors for patients with adult-onset type II citrullinemia. Liver Transpl 2004; 10:550-554.
29. Kiuchi T, Edamoto Y, Kaibori M, Uryuhara K, Kasahara M, Uemoto S, Egawa H, Inomata Y, Tanaka K: Auxiliary liver transplantation for urea-cycle enzyme deficiencies: lessons from three cases. Transplant Proc 1999; 31:528-529.