inborn-errors-of-metabolism63

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“SMALL MOLECULES” DISEASES INDUCINGCONGENITAL HYPERAMMONEMIAINCIDENCE•Overall: 1:9160•Organic Acidurias: 1:21422•Urea Cycle Defects: 1:41506•Fatty Acids Oxidation Defects: 1:91599AGE OF ONSETNeonate: 40%Infant: 30%Child: 20%Adult: 5-10% (?) Dionisi-Vici et al, J Pediatrics, 2002.
KEY POINTS FACING TO A HYPERAMMONEMICNEWBORN• hyperammonemia is extremely toxic (per se or throughintracellular excess glutamine formation) to the brain causingastrocyte swelling, brain edema, coma, death or severe disability,thus:• emergency treatment has to be started even before having aprecise diagnosis since prognosis may depend on: coma duration (total and/or before treatment)(Msall, 1984; Picca, 2001; McBryde, 2006) peak ammonium level(Enns, 2007) detoxification rapidity(Schaefer, 1999)
Page 1: 5th International Conference on Ped
Page 5 and 6: THE USUAL COURSE OF NEONATAL HYPERA
Page 11 and 12: 100 CAVHD patientsNH4p (percent of
Page 13 and 14: Dialysis in hyperammonemia:the “b
Page 15 and 16: PROGNOSTIC INDICATORS: SURVIVALMcBr
Page 17 and 18: 65n= 484patients32101986 1988 1990
Page 19 and 20: DESCRIPTIVE (2)Non continuous varia
Page 21 and 22: 10080Ammonia Decay (%)604020PD00 8
Page 23 and 24: DEP. VARIABLE 2: DEVELOPMENT AT 2 Y
Page 25 and 26: CONCLUSIONS-DIALYSIS• PD provides
Page 27 and 28: Outcome Neonatal Onset ptsShort-ter

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