Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 1988 Nov;63(11):1363-7.
doi: 10.1136/adc.63.11.1363.

Late onset ornithine carbamoyl transferase deficiency in males

E Drogari  1 , J V Leonard
Affiliations
Case Reports

Late onset ornithine carbamoyl transferase deficiency in males

E Drogari et al. Arch Dis Child. 1988 Nov.

Abstract

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.

PubMed Disclaimer

References

    1. Lancet. 1979 Sep 1;2(8140):452-4 - PubMed
    1. J Clin Endocrinol Metab. 1979 Mar;48(3):388-92 - PubMed
    1. Clin Chem. 1980 Mar;26(3):473-9 - PubMed
    1. J Pediatr. 1981 Dec;99(6):929-31 - PubMed
    1. Pediatr Res. 1982 Dec;16(12):977-81 - PubMed

Publication types

LinkOut - more resources