Living-related liver transplantation for Type II citrullinemia using a graft from heterozygote donor

Citation
M. Kasahara et al., Living-related liver transplantation for Type II citrullinemia using a graft from heterozygote donor, TRANSPLANT, 71(1), 2001, pp. 157-159
Citations number
11
Language
INGLESE
art.tipo
Article
Categorie Soggetti
Medical Research Diagnosis & Treatment
Journal title
TRANSPLANTATION
ISSN journal
0041-1337 → ACNP
Volume
71
Issue
1
Year of publication
2001
Pages
157 - 159
Database
ISI
SICI code
0041-1337(20010115)71:1<157:LLTFTI>2.0.ZU;2-L
Abstract
Background. Type II citrullinemia (CTLN2) characterized by a liver-specific argininosuccinate synthetase deficiency is an adult onset genetical disord er caused by the mutation of SLC25A13 gene, which results in fulminant hype rammonemia often with poor prognosis. Methods. A 16-year-old Japanese boy presented fulminant hyperammonemia and encephalopathy and recovered after aggressive medical treatment. The patien t was diagnosed as CTLN2 by plasma amino acid pattern and detection of the mutated SLC25A13 gene. We performed living-related liver transplantation (L RLT) using a graft from the genetically proven heterozygote father. Results. Serum amino acid concentration was normalized within a day after t ransplantation without protein restriction and medication. The patient's po stoperative course was natural. The patient is back in school 6 months afte r surgery. Conclusions. Living-related liver transplantation using a graft from geneti cally proven heterozygote donors might be a permissible treatment modality for CTLN2. Long-term observation may be necessary to make a definite conclu sion possible.