Saving a Life by Recognizing the Rash: Niacin (Vitamin B3) Deficiency in Hartnup Disease With a Clinical Debut in Adulthood
Tryptophan deficiency can lead to a critical shortness of niacin (vitamin B3), causing photosensitive dermatitis and a range of neurologic symptoms. The most common cause is severe protein malnutrition. However, in the case we present here, it is caused by a rare genetic disorder (Hartnup disease)....
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| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
American College of Physicians
2024-12-01
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| Series: | Annals of Internal Medicine: Clinical Cases |
| Online Access: | https://www.acpjournals.org/doi/10.7326/aimcc.2024.0137 |
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| Summary: | Tryptophan deficiency can lead to a critical shortness of niacin (vitamin B3), causing photosensitive dermatitis and a range of neurologic symptoms. The most common cause is severe protein malnutrition. However, in the case we present here, it is caused by a rare genetic disorder (Hartnup disease). A previously healthy 26-year-old woman presented with a photosensitive skin rash, myoclonic twitching of hands and mouth, and, ultimately, coma and status epilepticus. Starting treatment with high-dose niacin, even before the suspected diagnosis was confirmed, turned out to be a lifesaving intervention. |
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| ISSN: | 2767-7664 |