| Autor: |
McCormick, Benjamin Joseph, Ritchie, Leanna V., Porter, Ivan E. |
| Zdroj: |
BMJ Case Reports; May2024, Vol. 17 Issue 5, p1-3, 3p |
| 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. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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