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Table 1 Epidemiological characteristics of the patients

From: Long-term outcomes in Ornithine Transcarbamylase deficiency: a series of 90 patients

  Neonates Group 1 m-16y Group >16y
Number of cases 27 52 11
Males 22 21 5
females 5 31 6
Number of deceased 20 7 1
at diagnosis 13 5 1
during follow up 7 2 0
Number of decompensations per patient (and relative to mean length of follow-up)* 6,2 (1.0/yr) 2,5 (1/10 yrs) 1,4 (<1/20 yrs)
Neurological score (IQ) at last follow up, N > 80 90 92 Normal socio-professional insertion
Mean peak plasma ammonia at diagnosis (μmol/L), N < 50 μmol/L 960 500  
Mean plasma glutamine at diagnosis (μmol/L), N: 530 +/- 81 μmol/L 4110 1000  
Plasma citrulline at diagnosis (μmol/L), N: 26+/-8 μmol/L 5 15 14
  1. *Only the patients that survived beyond neonatal life were included.