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Table 2 Clinical presentations of 90 patients with OTC deficiency

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

Initial symptoms Neonatal-onset form Late-onset form (1 m-16 y) Adults (>16 y)
(n = 27) (n = 52) (n = 11)
Coma 21 14 4
Antenatal diagnosis (no symptoms) 6   
Neurological signs    
Alterations of consciousness   32 11
Global hypotonia   10 0
ataxia   2 0
acute regression   2 0
hemiparesis (« stroke-like »)   3 0
Digestive and Hepatologic signs    
recurrent vomiting   42 6
Reye’s syndrome   12 0
Psychiatric symptoms   11 4