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BMJ Case Rep ; 20152015 May 06.
Article in English | MEDLINE | ID: mdl-25948840

ABSTRACT

A 54-year-old woman with coeliac disease was admitted to hospital electively for supplemental nutrition. Shortly after feeding started she deteriorated into a hyperammonemic coma with refeeding syndrome, requiring an extensive intensive care admission. Urea cycle disorders were investigated and a biochemical diagnosis of ornithine transcarbamylase deficiency was made. This is a rare diagnosis in the adult population. This case report summarises protein metabolism, urea cycle disorders and the challenges of management.


Subject(s)
Coma/etiology , Hyperammonemia/etiology , Ornithine Carbamoyltransferase Deficiency Disease/complications , Ornithine Carbamoyltransferase Deficiency Disease/diagnosis , Coma/blood , Diagnosis, Differential , Female , Humans , Hyperammonemia/blood , Hyperammonemia/complications , Middle Aged , Ornithine Carbamoyltransferase Deficiency Disease/blood , Ornithine Carbamoyltransferase Deficiency Disease/therapy
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