A case of neonatal-onset carbamoyl-phosphate synthase I deficiency treated by continuous haemodiafiltration.
This is the first case of fulminant neonatal-onset carbamoyl-phosphate synthase I deficiency treated by continuous hemodiafiltration indicating that this is an available and effective procedure for neonates with hyperammonemic coma.
Kosho
T
T
Nakamura
T
T
Kaneko
T
T
Tamura
M
M
D000641:Ammonia / Q000097:blood; D001706:Biopsy; D020165:Carbamoyl-Phosphate Synthase I Deficiency Disease / Q000097:blood / Q000628:therapy*; D003128:Coma / Q000209:etiology; D017583:Hemodiafiltration / Q000379:methods; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D016896:Treatment Outcome
D000641:Ammonia