Liver transplantation for an infant with neonatal intrahepatic cholestasis caused by citrin deficiency using heterozygote living donor

Pediatric Transplantation

Volumn 14, Issue 7, 2010, Pages

  Shigeta, Takanobu ^a   Kasahara, Mureo ^a   Kimura, Takuya ^a   Fukuda, Akinari ^a   Sasaki, Kazunari ^a   Arai, Katsuhiro ^a   Nakagawa, Atsuko ^a   Nakagawa, Satoshi ^a   Kobayashi, Keiko ^b   Soneda, Shun ^c   Kitagawa, Hiroaki ^c  

^a NATIONAL CENTER FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

^b KAGOSHIMA UNIVERSITY   (Japan)

^c ST MARIANNA UNIVERSITY SCHOOL OF MEDICINE HOSPITAL   (Japan)

Author keywords

adult onset type II citrullinemia; end stage liver disease; heterozygote donor; living donor liver transplantation; neonatal intrahepatic cholestasis caused by citrin deficiency

Indexed keywords

AMINO ACID BLOOD LEVEL; ARTICLE; CASE REPORT; DIFFERENTIAL DIAGNOSIS; DISEASE COURSE; EVALUATION; FEMALE; FOLLOW UP; GENE; GENE MUTATION; GRAFT RECIPIENT; HETEROZYGOTE; HOSPITAL DISCHARGE; HUMAN; INFANT; INTRAHEPATIC CHOLESTASIS; LIVER FAILURE; LIVER TRANSPLANTATION; LIVING DONOR; NEONATAL INTRAHEPATIC CHOLESTASIS CAUSED BY CITRIN DEFICIENCY; SLC25A13 GENE;

CALCIUM-BINDING PROTEINS; CHOLESTASIS, INTRAHEPATIC; CITRULLINEMIA; FEMALE; HETEROZYGOTE; HUMANS; INFANT, NEWBORN; INFANT, NEWBORN, DISEASES; LIVER FAILURE; LIVER TRANSPLANTATION; LIVING DONORS; MITOCHONDRIAL MEMBRANE TRANSPORT PROTEINS; MODELS, GENETIC; MUTATION; ORGANIC ANION TRANSPORTERS; TOMOGRAPHY, X-RAY COMPUTED;

EID: 78349269544     PISSN: 13973142     EISSN: 13993046     Source Type: Journal    
DOI: 10.1111/j.1399-3046.2009.01172.x     Document Type: Article

References (4)

1. Saheki T, Kobayashi K,. Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset type II (CTLN2) and idiopathic neonatal hepatitis (NICCD). J Hum Genet 2002: 47: 333-341.
2. Ohura T, Kobayashi K, Tazawa Y, et al. Clinical pictures of 75 patients with neonatal intrahepatic cholestasis caused by citrin deficiency. J Inherit Metab Dis 2007: 30: 139-144. (Pubitemid 46487993)
3. Tamamori A, Okano Y, Ozaki H, et al. Neonatal intrahepatic cholestasis caused by citrin deficiency: Severe hepatic dysfunction in an infant requiring liver transplantation. Eur J Pediatric 2002: 161: 609-613.
4. Morioka D, Kasahara M, Takada Y, et al. 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.