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)....
Saved in:
| Main Authors: | , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
American College of Physicians
2024-12-01
|
| Series: | Annals of Internal Medicine: Clinical Cases |
| Online Access: | https://www.acpjournals.org/doi/10.7326/aimcc.2024.0137 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1850202538823909376 |
|---|---|
| author | Melanie Hafdi Inge C.M. Hoogland Arne A. Meesters Mirjam Langeveld Diederik van de Beek |
| author_facet | Melanie Hafdi Inge C.M. Hoogland Arne A. Meesters Mirjam Langeveld Diederik van de Beek |
| author_sort | Melanie Hafdi |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-1790d468dcae40938d9d2d01d8237fc0 |
| institution | OA Journals |
| issn | 2767-7664 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | American College of Physicians |
| record_format | Article |
| series | Annals of Internal Medicine: Clinical Cases |
| spelling | doaj-art-1790d468dcae40938d9d2d01d8237fc02025-08-20T02:11:43ZengAmerican College of PhysiciansAnnals of Internal Medicine: Clinical Cases2767-76642024-12-0131210.7326/aimcc.2024.0137Saving a Life by Recognizing the Rash: Niacin (Vitamin B3) Deficiency in Hartnup Disease With a Clinical Debut in AdulthoodMelanie Hafdi0Inge C.M. Hoogland1Arne A. Meesters2Mirjam Langeveld3Diederik van de Beek41Department of Neurology, Amsterdam University Medical Center, Amsterdam Neuroscience, University of Amsterdam, Amsterdam, The Netherlands1Department of Neurology, Amsterdam University Medical Center, Amsterdam Neuroscience, University of Amsterdam, Amsterdam, The Netherlands3Department of Dermatology, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands5Department of Internal Medicine, Division of Endocrinology and Metabolism, Amsterdam University Medical Center, University of Amsterdam and Amsterdam Gastroenterology Endocrinology and Metabolism, Inborn Errors of Metabolism, Amsterdam, The Netherlands1Department of Neurology, Amsterdam University Medical Center, Amsterdam Neuroscience, University of Amsterdam, Amsterdam, The NetherlandsTryptophan 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.https://www.acpjournals.org/doi/10.7326/aimcc.2024.0137 |
| spellingShingle | Melanie Hafdi Inge C.M. Hoogland Arne A. Meesters Mirjam Langeveld Diederik van de Beek Saving a Life by Recognizing the Rash: Niacin (Vitamin B3) Deficiency in Hartnup Disease With a Clinical Debut in Adulthood Annals of Internal Medicine: Clinical Cases |
| title | Saving a Life by Recognizing the Rash: Niacin (Vitamin B3) Deficiency in Hartnup Disease With a Clinical Debut in Adulthood |
| title_full | Saving a Life by Recognizing the Rash: Niacin (Vitamin B3) Deficiency in Hartnup Disease With a Clinical Debut in Adulthood |
| title_fullStr | Saving a Life by Recognizing the Rash: Niacin (Vitamin B3) Deficiency in Hartnup Disease With a Clinical Debut in Adulthood |
| title_full_unstemmed | Saving a Life by Recognizing the Rash: Niacin (Vitamin B3) Deficiency in Hartnup Disease With a Clinical Debut in Adulthood |
| title_short | Saving a Life by Recognizing the Rash: Niacin (Vitamin B3) Deficiency in Hartnup Disease With a Clinical Debut in Adulthood |
| title_sort | saving a life by recognizing the rash niacin vitamin b3 deficiency in hartnup disease with a clinical debut in adulthood |
| url | https://www.acpjournals.org/doi/10.7326/aimcc.2024.0137 |
| work_keys_str_mv | AT melaniehafdi savingalifebyrecognizingtherashniacinvitaminb3deficiencyinhartnupdiseasewithaclinicaldebutinadulthood AT ingecmhoogland savingalifebyrecognizingtherashniacinvitaminb3deficiencyinhartnupdiseasewithaclinicaldebutinadulthood AT arneameesters savingalifebyrecognizingtherashniacinvitaminb3deficiencyinhartnupdiseasewithaclinicaldebutinadulthood AT mirjamlangeveld savingalifebyrecognizingtherashniacinvitaminb3deficiencyinhartnupdiseasewithaclinicaldebutinadulthood AT diederikvandebeek savingalifebyrecognizingtherashniacinvitaminb3deficiencyinhartnupdiseasewithaclinicaldebutinadulthood |