Hartnup disorder

Definition:

Hartnup disorder is an autosomal recessive defect of neutral amino acid transport in kidney and intestine accompanied by the symptoms including pellagra-like photo-sensitive skin rash, cerebellar ataxia, and renal aminoaciduria. It is caused by hereditary abnormalities in the neutral amino acid transporter B0AT1 (SLC6A19) in apical membrane.

References:

[1]. A B Patel, et al. Hartnup disease. Indian J Dermatol. 2008 Jan;53(1):31-2. [Content Brief]

[2]. Jeffrey A Kraut, et al. Hartnup disorder: unraveling the mystery. Trends Pharmacol Sci. 2005 Feb;26(2):53-5. [Content Brief]

[3]. Stefan Bröer, et al. The role of the neutral amino acid transporter B0AT1 (SLC6A19) in Hartnup disorder and protein nutrition. IUBMB Life. 2009 Jun;61(6):591-9. [Content Brief]

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