1. Corticosteroid-induced hyperammonaemic encephalopathy in a woman with late-onset ornithine transcarbamylase deficiency.
- Author
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McCormick BJ, Ritchie LV, and Porter IE
- Subjects
- Humans, Female, Glucocorticoids therapeutic use, Glucocorticoids adverse effects, Renal Dialysis, Brain Diseases chemically induced, Brain Diseases etiology, Middle Aged, Diet, Protein-Restricted adverse effects, Ornithine Carbamoyltransferase Deficiency Disease complications, Ornithine Carbamoyltransferase Deficiency Disease diagnosis, Hyperammonemia chemically induced
- Abstract
Ornithine transcarbamylase deficiency (OTCD) is a rare, X linked disorder that can manifest in late adulthood in heterozygous females as severe hyperammonaemia following environmental stressors. We present a case of hyperammonaemic encephalopathy that was triggered by glucocorticoid administration in an adult woman with heterozygous OTCD with clinical response to haemodialysis, ammonia scavengers and a high-calorie, low-protein diet., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ.)
- Published
- 2024
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