Printer Friendly
Dictionary, Encyclopedia and Thesaurus - The Free Dictionary
3,913,286,128 visitors served.
forum Join the Word of the Day Mailing List For webmasters
?
Dictionary/
thesaurus
Medical
dictionary
Legal
dictionary
Financial
dictionary
Acronyms
 
Idioms
Encyclopedia
Wikipedia
encyclopedia
?

ornithine carbamoyltransferase deficiency

   Also found in: Dictionary/thesaurus, Encyclopedia, Wikipedia 0.01 sec.
ornithine carbamoyltransferase (OCT) deficiency,
an X-linked aminoacidopathy involving the biosynthesis of urea. Most hemizygous males show complete deficiency and do not survive the neonatal period. Heterozygous females show varying degrees of deficiency and age of onset. Characteristic signs include hyperammonemia, neurologic abnormalities, and orotic aciduria.


Want to thank TFD for its existence? Tell a friend about us, add a link to this page, add the site to iGoogle, or visit the webmaster's page for free fun content.
?Page tools
Printer friendly
Cite / link
Feedback
Add definition
Mentioned in?  References in periodicals archive?   Medical browser?   Full browser?
No references found
 
This dramatic case stumped physicians until the woman's blood revealed a telltale high level of ammonia, a diagnostic clue suggesting a rare, inherited disorder called ornithine carbamoyltransferase deficiency.
 
 
 
Medical Dictionary
?

Terms of Use | Privacy policy | Feedback | Advertise with Us | Copyright © 2012 Farlex, Inc.
Disclaimer
All content on this website, including dictionary, thesaurus, literature, geography, and other reference data is for informational purposes only. This information should not be considered complete, up to date, and is not intended to be used in place of a visit, consultation, or advice of a legal, medical, or any other professional.