Regular ArticleHomozygosity Mapping to Chromosome 5p15 of a Gene Responsible for Hartnup Disorder
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2018, Advances in Food and Nutrition ResearchCitation Excerpt :Diets rich in leucine, like those based on Sorghum, can lead to pellagra due to altered tryptophan metabolism in the presence of excessive leucine (Beretich, 2005; Gopalan, 1969, 2009). Hartnup disease is an autosomal recessive mutation in the gene for the neutral amino acid transporter SLC6A19, leading to depletion of tryptophan and increased susceptibility for development of pellagra (Bröer, Cavanaugh, & Rasko, 2005; Kraut & Sachs, 2005; Nozaki et al., 2001). Administration of niacin reverts the pellagra symptoms and highlights tryptophan's importance as complementary NAD precursor.
Eczema and Urticaria as Manifestations of Undiagnosed and Rare Diseases
2017, Pediatric Clinics of North AmericaCitation Excerpt :Secondary pellagra occurs when adequate amounts of niacin are consumed in the diet, but other conditions interfere with its absorption or processing. Hartnup disease is a rare autosomal-recessive disorder caused by a mutation in the SLC6A19 gene, which encodes a transporter of neutral amino acids.35 Loss of function of this transporter leads to inability to resorb tryptophan and other amino acids by the small intestine and renal tubules.
Nimesulide binding site in the B0AT1 (SLC6A19) amino acid transporter. Mechanism of inhibition revealed by proteoliposome transport assay and molecular modelling
2014, Biochemical PharmacologyCitation Excerpt :Since glutamine is one of the more efficiently transported substrates, B0AT1 is indirectly involved in the cell pathways underlined by this special amino acid, such as nucleotides and amino sugar synthesis, redox homeostasis through glutathione synthesis and shuttling of ammonia. The pivotal role of B0AT1 in the metabolism is demonstrated by the occurrence of the autosomal recessive Hartnup disease (OMIM: 234500) caused by defects of the human gene coding for this protein, identified and annotated in the chromosome 5 [1–5]. This syndrome is characterized by metabolic disorders with serious symptoms such as a pellagra-like light-sensitive rash, cerebellar ataxia, emotional instability, and strong amino aciduria linked to loss of activity of B0AT1 in kidney.
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