title: 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.affiliation: Department of Pediatrics, Genetic and Metabolic Clinic, Children's Hospital, Pusan National University, Gyeongnam, South Korea.
authors.forename: Chong Kun
authors.initials: CK
authors.lastname: Cheon
authors.forename: Beom Hee
authors.initials: BH
authors.lastname: Lee
authors.forename: Jung Min
authors.initials: JM
authors.lastname: Ko
authors.forename: Hyun-Ji
authors.initials: HJ
authors.lastname: Kim
authors.forename: Han-Wook
authors.initials: HW
authors.lastname: Yoo
mesh_terms: D026921:Amino Acid Transport Systems, Neutral / Q000235:genetics*; D001483:Base Sequence; D002648:Child; D006250:Hartnup Disease / Q000150:complications* / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D012640:Seizures / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics*
chemical_list: D026921:Amino Acid Transport Systems, Neutral; C491436:SLC6A19 protein, human