Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder


Hartnup disorder, an autosomal recessive defect named after an English family described in 1956 (ref. 1), results from impaired transport of neutral amino acids across epithelial cells in renal proximal tubules and intestinal mucosa. Symptoms include transient manifestations of pellagra (rashes), cerebellar ataxia and psychosis. Using homozygosity mapping… (More)
DOI: 10.1038/ng1405


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@article{Kleta2004MutationsIS, title={Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder}, author={Robert Kleta and Elisa Romeo and Zorica Ristic and Toshihiro Ohura and Caroline Stuart and Mauricio Arcos-Burgos and Mital H Dave and Carsten A Wagner and Simone Mafalda Rodrigues Camargo and Sumiko Inoue and Norio Matsuura and Amanda Helip-Wooley and Detlef Bockenhauer and richard. warth and Isa M Bernardini and G. M. Visser and Thomas Eggermann and Philip Lee and Arthit Chairoungdua and Promsuk Jutabha and E Dinakara Babu and Sirinun Nilwarangkoon and Naohiko Anzai and Yoshikatsu Kanai and François Verrey and William A Gahl and Akio Koizumi}, journal={Nature Genetics}, year={2004}, volume={36}, pages={999-1002} }