Corticosteroid-induced hyperammonaemic encephalopathy in a woman with late-onset ornithine transcarbamylase deficiency.
| Autor: | McCormick BJ; Internal Medicine, Mayo Clinic in Florida, Jacksonville, Florida, USA mccormick.benjamin@mayo.edu., Ritchie LV; Nephrology, Mayo Clinic in Florida, Jacksonville, Florida, USA., Porter IE; Nephrology, Mayo Clinic in Florida, Jacksonville, Florida, USA. |
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| Jazyk: | angličtina |
| Zdroj: | BMJ case reports [BMJ Case Rep] 2024 May 02; Vol. 17 (5). Date of Electronic Publication: 2024 May 02. |
| DOI: | 10.1136/bcr-2023-255793 |
| Abstrakt: | 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.) |
| Databáze: | MEDLINE |
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