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Logo of archdischArchives of Disease in ChildhoodVisit this articleSubmit a manuscriptReceive email alertsContact usBMJ
Arch Dis Child. 1988 November; 63(11): 1363–1367.
PMCID: PMC1779164

Late onset ornithine carbamoyl transferase deficiency in males.


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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