Department of Pediatrics, Genetic and Metabolic Clinic, Children's Hospital, Pusan National University, Gyeongnam, South Korea.
Pediatr Neurol. 2010 May;42(5):369-71. doi: 10.1016/j.pediatrneurol.2010.01.009.
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.
哈特纳普病是由肾脏和肠道中中性氨基酸转运的先天缺陷引起的。其特征为糙皮病样皮疹、共济失调和精神行为异常。尿中中性氨基酸升高是该病的第一个指标。SLC6A19 被确定为常染色体隐性遗传的哈特纳普病的致病基因，该基因编码氨基酸转运体 B(0)AT1，介导中性氨基酸从腔室到细胞内空间的转运。在此，我们报告了一例 8 岁零 5 个月的韩国男孩，经 SLC6A19 基因分析确诊为哈特纳普病。他表现为癫痫发作、注意缺陷多动障碍和精神发育迟滞，没有糙皮病或共济失调。他的尿液中多种中性氨基酸升高，SLC6A19 的基因分析显示复合杂合突变，c.908C>T(p.Ser303Leu)和 c.1787_1788insG(p.Thr596fsX73)，均为新突变。一个新的 SLC6A19 基因突变与一名韩国哈特纳普病患者的晚发性癫痫有关。
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