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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| Language: | English |
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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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| author | Bun Sheng Ka Fai Yim Tiffany Yan Lok Lam Candace Yim Chan Hencher Han Chih Lee |
| author_facet | Bun Sheng Ka Fai Yim Tiffany Yan Lok Lam Candace Yim Chan Hencher Han Chih Lee |
| author_sort | Bun Sheng |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-578f529fc2de45c5ac8bd44daf9b41e9 |
| institution | OA Journals |
| issn | 2767-7664 |
| language | English |
| publishDate | 2024-05-01 |
| publisher | American College of Physicians |
| record_format | Article |
| series | Annals of Internal Medicine: Clinical Cases |
| spelling | doaj-art-578f529fc2de45c5ac8bd44daf9b41e92025-08-20T02:27:20ZengAmerican College of PhysiciansAnnals of Internal Medicine: Clinical Cases2767-76642024-05-013510.7326/aimcc.2023.1399Adult-Onset Ornithine Transcarbamylase Deficiency in a 51-Year-Old Man Who Presented With Fatal Hyperammonemic EncephalopathyBun Sheng0Ka Fai Yim1Tiffany Yan Lok Lam2Candace Yim Chan3Hencher Han Chih Lee41Department of Medicine & Geriatrics, Princess Margaret Hospital, Hong Kong1Department of Medicine & Geriatrics, Princess Margaret Hospital, Hong Kong1Department of Medicine & Geriatrics, Princess Margaret Hospital, Hong Kong2Department of Pathology, Princess Margaret Hospital, Hong Kong2Department of Pathology, Princess Margaret Hospital, Hong KongTypical 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.https://www.acpjournals.org/doi/10.7326/aimcc.2023.1399 |
| spellingShingle | Bun Sheng Ka Fai Yim Tiffany Yan Lok Lam Candace Yim Chan Hencher Han Chih Lee Adult-Onset Ornithine Transcarbamylase Deficiency in a 51-Year-Old Man Who Presented With Fatal Hyperammonemic Encephalopathy Annals of Internal Medicine: Clinical Cases |
| title | Adult-Onset Ornithine Transcarbamylase Deficiency in a 51-Year-Old Man Who Presented With Fatal Hyperammonemic Encephalopathy |
| title_full | Adult-Onset Ornithine Transcarbamylase Deficiency in a 51-Year-Old Man Who Presented With Fatal Hyperammonemic Encephalopathy |
| title_fullStr | Adult-Onset Ornithine Transcarbamylase Deficiency in a 51-Year-Old Man Who Presented With Fatal Hyperammonemic Encephalopathy |
| title_full_unstemmed | Adult-Onset Ornithine Transcarbamylase Deficiency in a 51-Year-Old Man Who Presented With Fatal Hyperammonemic Encephalopathy |
| title_short | Adult-Onset Ornithine Transcarbamylase Deficiency in a 51-Year-Old Man Who Presented With Fatal Hyperammonemic Encephalopathy |
| title_sort | adult onset ornithine transcarbamylase deficiency in a 51 year old man who presented with fatal hyperammonemic encephalopathy |
| url | https://www.acpjournals.org/doi/10.7326/aimcc.2023.1399 |
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