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

Authors
Cheon, CK; Lee, BH; Ko, JM; Kim, HJ; Yoo, HW
Citation
Pediatric neurology, 42(5):369-371, 2010
Journal Title
Pediatric neurology
ISSN
0887-89941873-5150
Abstract
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 amino acid transport from the luminal compartment to the intracellular space. Here, we report on a Korean boy aged 8 years and 5 months with Hartnup disorder, as confirmed by SLC6A19 gene analysis. He manifested seizures, attention-deficit hyperactivity disorder, and mental retardation without pellagra or ataxia. Multiple neutral amino acids were increased in his urine, and genetic analysis of SLC6A19 revealed compound heterozygous mutations, c.908C>T (p.Ser303Leu) and c.1787_1788insG (p.Thr596fsX73), both of which are novel. A novel SLC6A19 gene mutation was associated with late-onset seizures in a Korean patient with Hartnup disorder.
MeSH terms
Amino Acid Transport Systems, Neutral/*geneticsBase SequenceChildHartnup Disease/*complications/diagnosis/*geneticsHumansMaleMolecular Sequence DataMutation/*geneticsSeizures/diagnosis/*etiology/*genetics
DOI
10.1016/j.pediatrneurol.2010.01.009
PMID
20399395
Appears in Collections:
Journal Papers > School of Medicine / Graduate School of Medicine > Medical Genetics
AJOU Authors
고, 정민
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