Report of 3 Patients With Urea Cycle Defects Treated With Related Living-Donor Liver Transplant

Ozcay F., Baris Z., Moray G., Haberal N., Torgay A., Haberal M.

EXPERIMENTAL AND CLINICAL TRANSPLANTATION, vol.13, pp.126-130, 2015 (SCI-Expanded) identifier identifier identifier


Urea cycle defects are a group of metabolic disorders caused by enzymatic disruption of the urea cycle pathway, transforming nitrogen to urea for excretion from the body. Severe cases present in early infancy with life-threatening metabolic decompensation, and these episodes of hyperammonemia can be fatal or result in permanent neurologic damage. Despite the progress in pharmacologic treatment, long-term survival is poor especially for severe cases. Liver trans plant is an alternative treatment option, providing sufficient enzymatic activity and decreasing the risk of metabolic decompensation.