Recurrent vomiting without apparent cause should alert the physician to the possibility of a
disorder of ammonia metabolism. Crystalluria in a three-month-old male infant with a history …

Six boys with ornithine carbamoyl transferase deficiency presenting in infancy or later
childhood are described. There was wide variation in both the time of presentation and the …

Sir, We were interested that Drogari and Leonard did not mention sodium valproate as a
possible precipitant of symptoms in late onset carbamoyl transferase deficiency in males.'We …

Extract: We have described a patient with ornithine transcarbamylase (OTC) deficiency. The
clinical course and pedigree substantiate the X-linked transmission of the defect with varying …

Extract: The activities of the urea cycle enzymes in the liver of a female patient with
hyperammonemia were determined (Table 1). Ornithine transcarbamylase (OTC, EC. 2.1 …

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 …

The mode of Inheritance of ornithine transcarbamylase deficiency was studied in four
kindreds, each containing one or more affected children with ammonia intoxication. In two …

A new case of deficiency of ornithine-carbamyl transferase is reported. To the best of our
knowledge, this is the 23rd case (10th case in a male). This new case is conventional as far …

A discrete deficiency of hepatic ornithine transcarbamylase (OTC) was found in male
patients who were 58, 46 and 17 years old. Each had developed hyperammonemic coma …

The specific syndrome arising from an absent or low hepatic ornithine transcarbamylase
activity has been termed hyperammonaemia (Russell et al., 1962; Levin and Russell, 1967; …