دورية أكاديمية
Novel mutation in SLC6A19 causing late-onset seizures in Hartnup disorder.
| العنوان: | Novel mutation in SLC6A19 causing late-onset seizures in Hartnup disorder. |
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| المؤلفون: | Cheon CK; Department of Pediatrics, Genetic and Metabolic Clinic, Children's Hospital, Pusan National University, Gyeongnam, South Korea., Lee BH, Ko JM, Kim HJ, Yoo HW |
| المصدر: | Pediatric neurology [Pediatr Neurol] 2010 May; Vol. 42 (5), pp. 369-71. |
| نوع المنشور: | Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review |
| اللغة: | English |
| بيانات الدورية: | Publisher: Elsevier Science Publishing Country of Publication: United States NLM ID: 8508183 Publication Model: Print Cited Medium: Internet ISSN: 1873-5150 (Electronic) Linking ISSN: 08878994 NLM ISO Abbreviation: Pediatr Neurol Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: New York Ny : Elsevier Science Publishing Original Publication: Chippewa Falls, Wis. : Professional Publications, [c1985- |
| مواضيع طبية MeSH: | Amino Acid Transport Systems, Neutral/*genetics , Hartnup Disease/*complications , Hartnup Disease/*genetics , Mutation/*genetics , Seizures/*etiology , Seizures/*genetics, Base Sequence ; Child ; Hartnup Disease/diagnosis ; Humans ; Male ; Molecular Sequence Data ; Seizures/diagnosis |
| مستخلص: | 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. (Copyright 2010 Elsevier Inc. All rights reserved.) |
| Number of References: | 14 |
| المشرفين على المادة: | 0 (Amino Acid Transport Systems, Neutral) 0 (SLC6A19 protein, human) |
| تواريخ الأحداث: | Date Created: 20100420 Date Completed: 20101025 Latest Revision: 20100419 |
| رمز التحديث: | 20221213 |
| DOI: | 10.1016/j.pediatrneurol.2010.01.009 |
| PMID: | 20399395 |
| قاعدة البيانات: | MEDLINE |
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Full Text Finder | تدمد: | 1873-5150 |
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| DOI: | 10.1016/j.pediatrneurol.2010.01.009 |