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

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.

• Authors: Chong Kun Cheon, Beom Hee Lee, Jung Min Ko, Hyun-Ji Kim, Han-Wook Yoo
• Journal: Pediatric neurology (Pediatr Neurol) Vol. 42 Issue 5 Pg. 369-71 (May 2010) ISSN: 1873-5150 [Electronic] United States
• PMID: 20399395 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't, Review)
• Copyright: Copyright 2010 Elsevier Inc. All rights reserved.

Chemical References

• Amino Acid Transport Systems, Neutral
• SLC6A19 protein, human

Topics

• Amino Acid Transport Systems, Neutral (genetics)
• Base Sequence
• Child
• Hartnup Disease (complications, diagnosis, genetics)
• Humans
• Male
• Molecular Sequence Data
• Mutation (genetics)
• Seizures (diagnosis, etiology, genetics)