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CASE REPORTS
JOURNAL ARTICLE
Late onset ornithine carbamoyl transferase deficiency in males.
Archives of Disease in Childhood 1988 November
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 symptoms, which may initially suggest a neurological, behavioural, or gastroenterological problem. Two patients died, as did two male siblings who were probably affected, but with early recognition of the hyperammonaemia the outlook is good.
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