Treatment of ornithine transcarbamylase deficiency in girls by auxiliary liver transplantation: conceptual changes in a living-donor program.

BACKGROUND/PURPOSE: Ornithine transcarbamylase (OTC) deficiency is an X-chromosome-linked genetic disorder resulting in hyperammonemia hepatic dysfunction, coma, and serious neurological sequelae. This report describes an experience in treating this condition with living-related liver transplantation.

METHODS

Three children with OTC were treated with a living-related liver transplantation. Potential donors were evaluated with the allopurinol loading test to exclude heterozygotes. FK506 and low-dose steroids were used for immunosuppression. Auxiliary partial orthotopic transplantation (APOLT) was used in two of the cases.

RESULTS

All three children survived and are doing well without protein restriction.

CONCLUSIONS

These observations suggest that in OTC removal of the native liver is not necessary because (1) a partial liver segment with normal enzyme activity corrects the hyperammonemia, (2) in case of graft failure the native liver is an available backup, and (3) the native liver has the ability to recover function. As long as living-related donors serve as the main source of donor organs, APOLT is a safer approach to liver transplantation in OTC.