Novel mutation in SLC6A19 causing late-onset seizures in Hartnup disorder.
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.
Cheon
Chong Kun
CK
Department of Pediatrics, Genetic and Metabolic Clinic, Children's Hospital, Pusan National University, Gyeongnam, South Korea.
Lee
Beom Hee
BH
Ko
Jung Min
JM
Kim
Hyun-Ji
HJ
Yoo
Han-Wook
HW
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*
D026921:Amino Acid Transport Systems, Neutral; C491436:SLC6A19 protein, human