Favorable long-term outcome following severe neonatal hyperammonemic coma in a patient with argininosuccinate synthetase deficiency.

ABSTRACT: This chapter reports on the sequelae-free 8-year follow-up with normal growth, intellectual development, and schooling of a boy with argininosuccinate synthetase deficiency (citrullinemia type I) who was rescued from severe neonatal hyperammonemic coma at 8 days of life (peak ammonia level of 1,058 μmol/L). Important clinical management aspects were: rapidity of response to emergency therapeutic measures that included specific drug regimen, protein restriction, optimal caloric intake and hemodialysis, short coma duration (14 h), possible neuroprotective effect of mild systemic hypothermia during the acute episode, long-term metabolic control with strict compliance to standard of care therapeutic and dietary regimens, active prevention of subsequent hyperammonemic episodes, and early neurod

SUBMITTER: De Bie I 

PROVIDER: S-EPMC3509823 | biostudies-literature | 2011

REPOSITORIES: biostudies-literature