inborn-errors-of-metabolism63

CONCLUSIONS-OUTCOME
• In our and in other series, dialysis modality did not affect the
outcome in the presence of a long mean pre-treatment duration
• In fact, plasma ammonium level before every treatment and
predialysis coma duration resulted to be the main determinants
of survival both at short and long term
• It is thus likely that the influence of detoxification rapidity on the
outcome becomes evident when pre-treatment duration is
shorter than that reported in our series, as reported by others
(Schaefer 1999, Pela 2008)
• However, as high intoxication level and long pre-treatment
duration are the consequence of a delayed intervention, the
need for an early diagnosis and treatment remains the crucial
issue of neonatal hyperammonemia.