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
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