Lea Klepač, Klara Miljanić, D. Ramadža, I. Barić, T. Žigman, Alisa Fejzić, Hana Franić, A. Barišić, I. Karas
{"title":"新生儿筛查发现SLC22A5基因纯合突变导致轻度肉毒碱摄取缺陷","authors":"Lea Klepač, Klara Miljanić, D. Ramadža, I. Barić, T. Žigman, Alisa Fejzić, Hana Franić, A. Barišić, I. Karas","doi":"10.26800/lv-145-supl2-cr57","DOIUrl":null,"url":null,"abstract":"variant c.820_821delTGinsGA (p.Trp274Glu) in the SLC22A5 gene, predicted to be damaging but unreported earlier, thus classified as a variant of unknown significance. OCTN2 activity in fibroblasts was 25% of the control value. The treatment and patient monitoring plan were adjusted accordingly.","PeriodicalId":18134,"journal":{"name":"Lijecnicki vjesnik","volume":"1 1","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2023-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Mild carnitine uptake defect due to a novel homozygous mutation in the SLC22A5 gene detected by newborn screening\",\"authors\":\"Lea Klepač, Klara Miljanić, D. Ramadža, I. Barić, T. Žigman, Alisa Fejzić, Hana Franić, A. Barišić, I. Karas\",\"doi\":\"10.26800/lv-145-supl2-cr57\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"variant c.820_821delTGinsGA (p.Trp274Glu) in the SLC22A5 gene, predicted to be damaging but unreported earlier, thus classified as a variant of unknown significance. OCTN2 activity in fibroblasts was 25% of the control value. The treatment and patient monitoring plan were adjusted accordingly.\",\"PeriodicalId\":18134,\"journal\":{\"name\":\"Lijecnicki vjesnik\",\"volume\":\"1 1\",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2023-04-23\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Lijecnicki vjesnik\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.26800/lv-145-supl2-cr57\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Lijecnicki vjesnik","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.26800/lv-145-supl2-cr57","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"Medicine","Score":null,"Total":0}
Mild carnitine uptake defect due to a novel homozygous mutation in the SLC22A5 gene detected by newborn screening
variant c.820_821delTGinsGA (p.Trp274Glu) in the SLC22A5 gene, predicted to be damaging but unreported earlier, thus classified as a variant of unknown significance. OCTN2 activity in fibroblasts was 25% of the control value. The treatment and patient monitoring plan were adjusted accordingly.
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