Living-related liver transplantation for type II citrullinemia using a graft from heterozygote donor.
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.
Kasahara
M
M
Second Department of Surgery, Gunma University Hospital, Japan.
Ohwada
S
S
Takeichi
T
T
Kaneko
H
H
Tomomasa
T
T
Morikawa
A
A
Yonemura
K
K
Asonuma
K
K
Tanaka
K
K
Kobayashi
K
K
Saheki
T
T
Takeyoshi
I
I
Morishita
Y
Y
D000293:Adolescent; D000596:Amino Acids / Q000097:blood; D020159:Citrullinemia / Q000601:surgery*; D006579:Heterozygote; D006801:Humans; D007166:Immunosuppressive Agents / Q000627:therapeutic use; D016031:Liver Transplantation / Q000276:immunology; D019520:Living Donors; D008297:Male; D016559:Tacrolimus / Q000627:therapeutic use
D000596:Amino Acids; D007166:Immunosuppressive Agents; D016559:Tacrolimus