Hyperammonaemic encephalopathy induced by a commercial very‐low‐energy diet in a neglected ornithine‐carbamoyltransferase‐deficient woman | Zendy

Vinzio S. | Zendy; Perrin A. E. | Zendy; Forestier E. | Zendy; Schlienger J. L. | Zendy; Goichot B. | Zendy

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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.

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