Ornithine Transcarbamylase Deficiency

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Abstract
Three successive male infants in one family became comatose and died at less than 10 days of age. No cause for death was identified in the first boy, but striking hyperammonemia, which was due to almost complete absence of hepatic ornithine transcarbamylase activity, was found in the second and third boys. All attempts to control the hyperammonemia, including total dietary protein restriction, exchange transfusion and peritoneal dialysis, proved futile, suggesting that ornithine transcarbamylase deficiency of this magnitude is incompatible with survival. These findings are in sharp contrast to previous reports of partial ornithine transcarbamylase deficiency, noted to occur almost exclusively in females and to be compatible with long-term survival on a diet restricted in protein. Hyperammonemia resulting from almost complete ornithine transcarbamylase deficiency must now be included in the differential diagnosis of neonatal lethargy and coma.