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

Year: 2024

Type: article

Abstract: 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.

Source: Annals of Internal Medicine Clinical Cases

DOI: 10.7326/aimcc.2024.0137

Authors: Melanie Hafdi, Inge C.M. Hoogland, Arne A. Meesters, Mirjam Langeveld, Diederik van de Beek

Institutions: Amsterdam Neuroscience, University of Amsterdam, Meander Medisch Centrum, Noordwest Ziekenhuisgroep, Amsterdam University Medical Centers, Amsterdam Gastroenterology Endocrinology Metabolism

Language: English

Topic: Metabolism and Genetic Disorders

Subfield: Clinical Biochemistry

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W4405466298

FWCI:

Cites: 13

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Related to: 10