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Xu, C. Hartnup Disease. Encyclopedia. Available online: https://encyclopedia.pub/entry/4057 (accessed on 26 September 2026).
Xu C. Hartnup Disease. Encyclopedia. Available at: https://encyclopedia.pub/entry/4057. Accessed September 26, 2026.
Xu, Camila. "Hartnup Disease" Encyclopedia, https://encyclopedia.pub/entry/4057 (accessed September 26, 2026).
Xu, C. (2020, December 23). Hartnup Disease. In Encyclopedia. https://encyclopedia.pub/entry/4057
Xu, Camila. "Hartnup Disease." Encyclopedia. Web. 23 December, 2020.
Copy Citation
Hartnup disease is a condition caused by the body's inability to absorb certain protein building blocks (amino acids) from the diet.
genetic conditions
References
- Azmanov DN, Kowalczuk S, Rodgers H, Auray-Blais C, Giguère R, Rasko JE, Bröer S, Cavanaugh JA. Further evidence for allelic heterogeneity in Hartnup disorder. Hum Mutat. 2008 Oct;29(10):1217-21. doi: 10.1002/humu.20777.
- Azmanov DN, Rodgers H, Auray-Blais C, Giguère R, Bailey C, Bröer S, Rasko JE, Cavanaugh JA. Persistence of the common Hartnup disease D173N allele inpopulations of European origin. Ann Hum Genet. 2007 Nov;71(Pt 6):755-61.
- Bröer S. The role of the neutral amino acid transporter B0AT1 (SLC6A19) inHartnup disorder and protein nutrition. IUBMB Life. 2009 Jun;61(6):591-9. doi:10.1002/iub.210. Review.
- Camargo SM, Singer D, Makrides V, Huggel K, Pos KM, Wagner CA, Kuba K,Danilczyk U, Skovby F, Kleta R, Penninger JM, Verrey F. Tissue-specific aminoacid transporter partners ACE2 and collectrin differentially interact withhartnup mutations. Gastroenterology. 2009 Mar;136(3):872-82. doi:10.1053/j.gastro.2008.10.055.
- Kleta R, Romeo E, Ristic Z, Ohura T, Stuart C, Arcos-Burgos M, Dave MH, WagnerCA, Camargo SR, Inoue S, Matsuura N, Helip-Wooley A, Bockenhauer D, Warth R,Bernardini I, Visser G, Eggermann T, Lee P, Chairoungdua A, Jutabha P, Babu E,Nilwarangkoon S, Anzai N, Kanai Y, Verrey F, Gahl WA, Koizumi A. Mutations inSLC6A19, encoding B0AT1, cause Hartnup disorder. Nat Genet. 2004Sep;36(9):999-1002.
- Seow HF, Bröer S, Bröer A, Bailey CG, Potter SJ, Cavanaugh JA, Rasko JE.Hartnup disorder is caused by mutations in the gene encoding the neutral aminoacid transporter SLC6A19. Nat Genet. 2004 Sep;36(9):1003-7.
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