Adult-Onset Ornithine Transcarbamylase Deficiency in a 51-Year-Old Man Who Presented With Fatal Hyperammonemic Encephalopathy
Typical male patients with ornithine transcarbamylase deficiency present in their early years with lethargy, seizure, and coma from hyperammonemia. An adult-onset phenotype, with sudden severe hyperammonemia emerging in otherwise-healthy men, has been increasingly recognized. We describe a character...
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| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
American College of Physicians
2024-05-01
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| Series: | Annals of Internal Medicine: Clinical Cases |
| Online Access: | https://www.acpjournals.org/doi/10.7326/aimcc.2023.1399 |
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| Summary: | Typical male patients with ornithine transcarbamylase deficiency present in their early years with lethargy, seizure, and coma from hyperammonemia. An adult-onset phenotype, with sudden severe hyperammonemia emerging in otherwise-healthy men, has been increasingly recognized. We describe a characteristic clinical course in a 51-year-old Chinese man who developed fatal hyperammonemia after receiving systemic corticosteroid for Bell's palsy. The genetic sequencing detected a novel missense variant NM_000531.6:c.642C>A (p.His214Gln) in the OTC gene. Inherited urea cycle disorders should be suspected in unexplained hyperammonemia at all ages with aggressive treatment initiated promptly before a diagnosis is confirmed. |
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| ISSN: | 2767-7664 |