HAMOUCHE Naji, TOHME Rana, EL ACHKAR Mariella, HMAIMESS Ghassan, BAYDOUN Abed El Karim, SOKHN Maroun, GHABRIL Ramy, GHADIEH Joëlle M, NAOUFAL Rania, KHNEISSER Issam, FATTAH Mohamad, KHOURY Jacqueline, MANSOUR Hicham
{"title":"A Novel Variant of ASL Gene Mutation in a Lebanese Neonate with Severe Argininosuccinic Aciduria Phenotype","authors":"HAMOUCHE Naji, TOHME Rana, EL ACHKAR Mariella, HMAIMESS Ghassan, BAYDOUN Abed El Karim, SOKHN Maroun, GHABRIL Ramy, GHADIEH Joëlle M, NAOUFAL Rania, KHNEISSER Issam, FATTAH Mohamad, KHOURY Jacqueline, MANSOUR Hicham","doi":"10.58624/svoapd.2023.02.050","DOIUrl":null,"url":null,"abstract":"Argininosuccinic aciduria is a urea cycle defect associated with deficiency in argininosuccinate lyase enzyme, leading to a severe hyperammonemic encephalopathy, epilepsy and hepatopathy. Only very few known mutations have been linked with a severe phenotype. Here we report the case of a Lebanese newborn child with a very early manifestation of argininosuccinic aciduria, his genetic studies confirmed the presence of a mutation in the ASL gene (c.697A>C p. (Thr233Pro) at the homozygous state. To our knowledge, this is the first time this variant has been reported in literature.","PeriodicalId":382758,"journal":{"name":"SVOA Paediatrics","volume":"22 2","pages":"0"},"PeriodicalIF":0.0000,"publicationDate":"2023-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"SVOA Paediatrics","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.58624/svoapd.2023.02.050","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
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Abstract
Argininosuccinic aciduria is a urea cycle defect associated with deficiency in argininosuccinate lyase enzyme, leading to a severe hyperammonemic encephalopathy, epilepsy and hepatopathy. Only very few known mutations have been linked with a severe phenotype. Here we report the case of a Lebanese newborn child with a very early manifestation of argininosuccinic aciduria, his genetic studies confirmed the presence of a mutation in the ASL gene (c.697A>C p. (Thr233Pro) at the homozygous state. To our knowledge, this is the first time this variant has been reported in literature.
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