Saturday, February 24, 2024
HomeDermatologyHartnup Disease

Hartnup Disease

Practice Essentials

Hartnup disease is an autosomal recessive disorder caused by impaired neutral (ie, monoaminomonocarboxylic) amino acid transport in the apical brush border membrane of the small intestine and the proximal tubule of the kidney. Patients present with pellagralike skin eruptions, cerebellar ataxia, and gross aminoaciduria.


- Advertisment -

Most Popular