Ammonia and coma – a case report of late onset hemizygous ornithine carbamyltransferase deficiency in 68-year-old female

Ammonia and coma – a case report of late onset hemizygous ornithine carbamyltransferase deficiency in 68-year-old female

Abstract Background Acute hyperammonemia without signs of common causes in the elderly might be challenging to identify. We report the oldest case known to date of a female patient with late onset ornithine carbamyltransferase deficiency (OTC), which was unmasked after a protein overload due to nutr...

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Bibliographic Details
Main Authors: Justus Marquetand, Peter Freisinger, Tobias Lindig, Sebastian Euler, Michael Gasser, Dietrich Overkamp
Format: Article
Language:English
Published: BMC 2020-04-01
Series:BMC Neurology
Subjects:
Hemizygous ornithine carbamyltransferase deficiency
OTC
Ammoniac
Coma
Late onset
Online Access:http://link.springer.com/article/10.1186/s12883-020-01700-9

Internet

http://link.springer.com/article/10.1186/s12883-020-01700-9

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