HEMODIALYSIS OR HEMOFILTRATION AS TREATME NT OF ACUTE HYPERAMMONEMIC COMA CAUSED BY INBORN-ERRORS OF METABOLISM IN NEONATES AND INFANTS

Inborn errors of the urea cycle and of the organic acid metabolism can cause acute hyperammonemia in neonates which, if untreated, leads to coma, severe brain damage or death. These complications, however, can be prevented by proper diagnosis and early therapeutic intervention. R apid decline in ammonia blood levels are essential and can be achieved by the following four therapeutic principles 1. restriction of protei n intake (while maintaining essential amino acids), 2. reduction of pr otein catabolism by a hypercaloric diet, 3. activation of alternative pathways of ammonia elimination,and 4. elimination of ammonia from the circulation by dialysis. We report on 4 cases who were submitted beca use of acute hyperammonemic coma. All patients were treated immediatel y after diagnosis with hemodialysis (HD) or hemofiltration (HF). In al l 4 patients brood ammonia levels were rapidly decreased to normal val ues leading to significant improvements of the neurologic state. The l ong term outcomes were, however, determined by the underlying metaboli c disorder. Discussion: Our case reports confirm the effectiveness of HD and HF in the treatment of acute hyperammonemic coma. Since the dia gnosis and the prognosis of metabolic disorders are rarely known at th e time when the patient becomes symptomatic and needs therapy, a ny ne onate with acute hyperammonemia should be referred to a special care u nit where technical facilities for extracorporal dialysis are availabl e.