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Case Reports
. 2024 May 2;17(5):e255793.
doi: 10.1136/bcr-2023-255793.

Corticosteroid-induced hyperammonaemic encephalopathy in a woman with late-onset ornithine transcarbamylase deficiency

Benjamin Joseph McCormick  1 , Leanna V Ritchie  2 , Ivan E Porter  2
Affiliations
Case Reports

Corticosteroid-induced hyperammonaemic encephalopathy in a woman with late-onset ornithine transcarbamylase deficiency

Benjamin Joseph McCormick et al. BMJ Case Rep. .

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.

Keywords: Dialysis; Genetics; Medical management; Unwanted effects / adverse reactions.

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Conflict of interest statement

Competing interests: None declared.

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References

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