Adult-onset ornithine transcarbamylase (OTC) deficiency unmasked by the Atkins' diet

Ben-Ari, Ziv; Dalal, Adam; Morry, Ady; Pitlik, Silvio; Zinger, Pierre; Cohen, Jonathan; Fattal, Ittai; Galili-Mosberg, Ronit; Tessler, Debora; Baruch, Ruth Gershoni; Nuoffer, Jean-Marc; Largiader, Carlo R; Mandel, Hanna (2010). Adult-onset ornithine transcarbamylase (OTC) deficiency unmasked by the Atkins' diet. Journal of hepatology, 52(2), pp. 292-5. Amsterdam: Elsevier 10.1016/j.jhep.2009.11.014

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Late-onset symptoms of urea-cycle disorder may lead to a life-threatening disease which is often undetected. We report the clinical and metabolic manifestations of acute hyperammonemic encephalopathy in a 47-year-old asymptomatic man with ornithine transcarbamylase (OTC) deficiency. The hyperammonemic encephalopathy was unmasked by a high-protein Atkins diet.

Item Type:

Journal Article (Original Article)

Division/Institute:

04 Faculty of Medicine > Department of Haematology, Oncology, Infectious Diseases, Laboratory Medicine and Hospital Pharmacy (DOLS) > Institute of Clinical Chemistry

UniBE Contributor:

Nuoffer, Jean-Marc and Largiadèr, Carlo Rodolfo

ISSN:

0168-8278

Publisher:

Elsevier

Language:

English

Submitter:

Factscience Import

Date Deposited:

04 Oct 2013 14:07

Last Modified:

17 Mar 2015 19:07

Publisher DOI:

10.1016/j.jhep.2009.11.014

PubMed ID:

20031247

Web of Science ID:

000275390500023

URI:

https://boris.unibe.ch/id/eprint/263 (FactScience: 197212)

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