Living-related liver transplantation for type II citrullinemia using a graft from heterozygote donor
- PMID: 11211185
- DOI: 10.1097/00007890-200101150-00027
Living-related liver transplantation for type II citrullinemia using a graft from heterozygote donor
Abstract
Background: Type II citrullinemia (CTLN2) characterized by a liver-specific argininosuccinate synthetase deficiency is an adult onset genetical disorder caused by the mutation of SLC25A13 gene, which results in fulminant hyperammonemia often with poor prognosis.
Methods: A 16-year-old Japanese boy presented fulminant hyperammonemia and encephalopathy and recovered after aggressive medical treatment. The patient was diagnosed as CTLN2 by plasma amino acid pattern and detection of the mutated SLC25A13 gene. We performed living-related liver transplantation (LRLT) using a graft from the genetically proven heterozygote father.
Results: Serum amino acid concentration was normalized within a day after transplantation without protein restriction and medication. The patient's postoperative course was natural. The patient is back in school 6 months after surgery.
Conclusions: Living-related liver transplantation using a graft from genetically proven heterozygote donors might be a permissible treatment modality for CTLN2. Long-term observation may be necessary to make a definite conclusion possible.
Similar articles
-
Living donor liver transplantation for type II citrullinemia from a heterozygous donor.Hepatogastroenterology. 2008 Nov-Dec;55(88):2211-6. Hepatogastroenterology. 2008. PMID: 19260507
-
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 Jul;41(7):555-60. doi: 10.2169/internalmedicine.41.555. Intern Med. 2002. PMID: 12132524
-
Citrullinemia Type 1: Behavioral Improvement with Late Liver Transplantation.Indian J Pediatr. 2019 Jul;86(7):639-641. doi: 10.1007/s12098-019-02905-8. Epub 2019 Mar 8. Indian J Pediatr. 2019. PMID: 30848473
-
Liver transplantation versus conservative treatment for adult-onset type II citrullinemia: our experience and a review of the literature.Transplant Proc. 2013 Nov;45(9):3432-7. doi: 10.1016/j.transproceed.2013.06.016. Transplant Proc. 2013. PMID: 24182831 Review.
-
Type II citrullinemia in an elderly patient treated with living related partial liver transplantation.Intern Med. 2000 Jul;39(7):553-8. doi: 10.2169/internalmedicine.39.553. Intern Med. 2000. PMID: 10888211 Review.
Cited by
-
Neonatal intrahepatic cholestasis caused by citrin deficiency in Korean infants.J Korean Med Sci. 2007 Dec;22(6):952-6. doi: 10.3346/jkms.2007.22.6.952. J Korean Med Sci. 2007. PMID: 18162705 Free PMC article.
-
Liver transplantation in an adult with citrullinaemia type 2.J Transplant. 2011;2011:176370. doi: 10.1155/2011/176370. Epub 2011 May 10. J Transplant. 2011. PMID: 21647347 Free PMC article.
-
Living Related Liver Transplantation for Metabolic Liver Diseases in Children.J Pediatr Gastroenterol Nutr. 2021 Jan 1;72(1):11-17. doi: 10.1097/MPG.0000000000002952. J Pediatr Gastroenterol Nutr. 2021. PMID: 32969959 Free PMC article.
-
Type II (adult onset) citrullinaemia: clinical pictures and the therapeutic effect of liver transplantation.J Neurol Neurosurg Psychiatry. 2001 Nov;71(5):663-70. doi: 10.1136/jnnp.71.5.663. J Neurol Neurosurg Psychiatry. 2001. PMID: 11606680 Free PMC article.
-
Identification of two novel mutations in the SLC25A13 gene and detection of seven mutations in 102 patients with adult-onset type II citrullinemia.Hum Genet. 2000 Dec;107(6):537-45. doi: 10.1007/s004390000430. Hum Genet. 2000. PMID: 11153906
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Medical
