[Therapy of hyperammonemia in carbamyl phosphate synthase deficiency with peritoneal dialysis and venovenous hemofiltration].
Inborn errors of metabolism with hyperammonaemia cause emergency situations with unconsciousness, convulsion, hyperpnoea and hyperpyrexia. Therefore hyperammonaemia has to be treated immediately after diagnosis to avoid irreversible damage. Two newborns with carbamylphosphates synthetase deficiency are described. Both, continuous peritoneal dialysis and venovenous haemofiltration have proved to be effective methods to reduce serum ammonia concentration to values of less than 300 mu/l. Because of the severity of the enzyme defect in both cases, (carbamylphosphate synthetase was not detectable in liver tissue), treatment finally had to be stopped, and both patients died.
Lettgen
B
B
Universitätsklinik für Kinder- und Jugendmedizin, Universität Essen (GHS).
Bonzel
K E
KE
Colombo
J P
JP
Fuchs
B
B
Kordass
U
U
Wendel
K
K
Rascher
W
W
D000592:Amino Acid Metabolism, Inborn Errors / Q000201:enzymology / Q000628:therapy*; D000641:Ammonia / Q000097:blood*; D002222:Carbamoyl-Phosphate Synthase (Ammonia) / Q000172:deficiency*; D003131:Combined Modality Therapy; D005260:Female; D006440:Hemofiltration; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010530:Peritoneal Dialysis
D000641:Ammonia; D002222:Carbamoyl-Phosphate Synthase (Ammonia)
Therapie der Hyperammonämie bei Carbamylphosphat-Synthetasemangel mittels Peritonealdialyse und venovenöser Hämofiltration.