A Case of Maple Syrup Urine Disease Diagnosed in Adulthood
Classic maple syrup urine disease (MSUD) is typically diagnosed in newborns, whereas nonclassic forms may manifest at any age. We describe a 58-year-old man presenting with recurrent encephalopathy, found with a nonclassic form of MSUD. This patient case highlights the importance of considering inbo...
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| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
American College of Physicians
2022-04-01
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| Series: | Annals of Internal Medicine: Clinical Cases |
| Online Access: | https://www.acpjournals.org/doi/10.7326/aimcc.2022.0101 |
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| Summary: | Classic maple syrup urine disease (MSUD) is typically diagnosed in newborns, whereas nonclassic forms may manifest at any age. We describe a 58-year-old man presenting with recurrent encephalopathy, found with a nonclassic form of MSUD. This patient case highlights the importance of considering inborn errors of metabolism in the differential diagnosis of adult patients presenting with neurologic symptoms of unclear cause. |
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| ISSN: | 2767-7664 |