Hyperammonaemic encephalopathy induced by a commercial very-low-energy diet in a neglected ornithine-carbamoyltransferase-deficient woman.
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.
Vinzio
S
S
Department of Internal Medicine and Nutrition, Hôpital de Hautepierre, Université Louis Pasteur de Strasbourg, Strasbourg, France. stephane.vinzio@chru-strasbourg.fr
Perrin
A E
AE
Forestier
E
E
Schlienger
J L
JL
Goichot
B
B
D000328:Adult; D001927:Brain Diseases / Q000201:enzymology* / Q000473:pathology*; D004032:Diet; D005260:Female; D006579:Heterozygote; D006801:Humans; D022124:Hyperammonemia; D009954:Ornithine Carbamoyltransferase / Q000378:metabolism*; D020163:Ornithine Carbamoyltransferase Deficiency Disease / Q000175:diagnosis* / Q000378:metabolism*; D012306:Risk
D009954:Ornithine Carbamoyltransferase