Saving a Life by Recognizing the Rash: Niacin (Vitamin B3) Deficiency in Hartnup Disease With a Clinical Debut in Adulthood

Saving a Life by Recognizing the Rash: Niacin (Vitamin B3) Deficiency in Hartnup Disease With a Clinical Debut in Adulthood

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camo iphone se case 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 here before the suspected diagnosis was confirmed, turned out to be a lifesaving intervention.