Journal of pediatric gastroenterology and nutrition
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J. Pediatr. Gastroenterol. Nutr. · May 1996
Case ReportsCryptogenic hepatitis masking the diagnosis of ornithine transcarbamylase deficiency.
We describe three children with transaminase elevations and hepatic insufficiency who were given the diagnosis of cryptogenic hepatitis after the more common viral and metabolic diseases of the liver had been excluded. However, further laboratory investigations showed hyperammonemia, low blood urea levels, elevated plasma glutamine levels, and low citrulline levels. ⋯ These findings suggest the diagnosis of ornithine transcarbamylase deficiency. We emphasize the importance of investigating possible urea cycle disorders by determining ammonia plasma levels, both at baseline and after a protein load; urinary and plasma amino acids; and urinary orotic acid in all patients with liver disease of indeterminate etiology.