Novel Mutation in SLC6A19 Causing Late-Onset Seizures in Hartnup Disorder - 04/08/11
, Beom Hee Lee, MD †, Jung Min Ko, MD ‡, Hyun-Ji Kim, MD §, Han-Wook Yoo, MD †, ⁎ 
Department of Pediatrics, Genetic and Metabolic Clinic, Children’s Hospital, Pusan National University, Gyeongnam, South Korea Communications should be addressed to: Dr. Yoo; Department of Pediatrics; Medical Genetics Clinic and Laboratory, Asan Medical Center Children’s Hospital; University of Ulsan College of Medicine; 388-1 Pungnap-Dong; Songpa-Gu, 138-736 Seoul, South Korea.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 B0AT1, 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.
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Vol 42 - N° 5
P. 369-371 - mai 2010 Retour au numéro
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