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Novel mutation in SLC6A19 causing late-onset seizures in Hartnup disorder.

Pediatric neurology - 1 May 2010

Cheon Chong Kun, Lee Beom Hee, Ko Jung Min, Kim Hyun-Ji, Yoo Han-Wook

Abstract excerpt

Hartnup disorder is caused by an inborn error of neutral amino acid transport in the kidneys and intestines. It is characterized by pellagra-like rash, ataxia, and psychotic behavior. Elevated urinary neutral amino acids are the first indicator of the disorder. SLC6A19 was identified as the causative gene in autosomal-recessive Hartnup disorder, which encodes the amino acid transporter B(0)AT1, mediating neutral...

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PMID: 20399395
DOI: 10.1016/j.pediatrneurol.2010.01.009

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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