Article
Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder.
Nature genetics - 1 Sept 2004
Kleta Robert, Romeo Elisa, Ristic Zorica, Ohura Toshihiro, Stuart Caroline, Arcos-Burgos Mauricio, Dave Mital H, Wagner Carsten A, Camargo Simone R M, Inoue Sumiko, Matsuura Norio, Helip-Wooley Amanda, Bockenhauer Detlef, Warth Richard, Bernardini Isa, Visser Gepke, Eggermann Thomas, Lee Philip, Chairoungdua Arthit, Jutabha Promsuk, Babu Ellappan, Nilwarangkoon Sirinun, Anzai Naohiko, Kanai Yoshikatsu, Verrey Francois, Gahl William A, Koizumi Akio
Abstract excerpt
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 in the original family in whom Hartnup disorder was...
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