Prospective treatment of urea cycle disorders.

摘要: We present a diagnostic and therapeutic protocol designed to prevent clinical expression of inborn errors urea synthesis in the neonatal period, discuss long-term developmental outcome survivors. The families 32 infants, among 43 identified prenatally as being at risk for cycle disorder, chose have their infants treated according protocol, beginning birth. therapy was effective avoiding hyperammonemic coma death seven patients with carbamoyl phosphate synthetase deficiency, argininosuccinate lyase deficiency. When prospectively, five eight ornithine transcarbamylase deficiency avoided severe hyperammonemia survived period. Two two subsequently died; three additional latter disorder received orthotopic liver transplants. Our experience suggests that these surviving had more favorable neurologic than rescued from coma. However, all them require burdensome medical regimen may handicaps include impairment development recurrent episodes hyperammonemia. Further, those or high mortality rate.