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TL;DR
The paper describes two male newborns (3 days old each) with ornithine carbamyltransferase deficiency (OTCD).
Translational Pediatrics · 6 authors, 2 centres
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The paper describes two male newborns (3 days old each) with ornithine carbamyltransferase deficiency (OTCD).
The paper describes two male newborns (3 days old each) with ornithine carbamyltransferase deficiency (OTCD). Both presented with severe neurological impairment (e.g., decreased muscle tone, convulsions, coma), elevated blood ammonia, decreased citrulline, and increased orotic acid. Both infants died after families withdrew care due to serious brain damage. The authors also reviewed literature on 62 neonatal OTCD patients, noting poor prognosis. The findings highlight the severe neonatal phenotype of OTCD and the importance of combining clinical, biochemical, and genetic testing for diagnosis.