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Hyperammonaemic encephalopathy induced by a commercial very‐low‐energy diet in a neglected ornithine‐carbamoyltransferase‐deficient woman
Author(s) -
Vinzio S.,
Perrin A. E.,
Forestier E.,
Schlienger J. L.,
Goichot B.
Publication year - 2005
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-005-0209-4
Subject(s) - ornithine carbamoyltransferase , encephalopathy , biology , endocrinology , pediatrics , medicine , ornithine , genetics , amino acid , arginine
Summary This case report describes a 31‐year‐old woman with a neglected ornithine carbamoyltransferase deficiency, admitted for a hyperammonaemic encephalopathy induced by a commercial very low‐energy diet. To our knowledge, this is the first reported case and it underlines the potential risk of such a diet in patients with undiagnosed or neglected ornithine carbamoyltransferase deficiency.