Hyewon Kim, Ji Kyoung Park, Jeong Eun Lee, K. Lee, B. Lee
{"title":"X-Linked Cerebral Creatine Deficiency Syndrome with Prolonged QT Interval: A Case Report","authors":"Hyewon Kim, Ji Kyoung Park, Jeong Eun Lee, K. Lee, B. Lee","doi":"10.26815/acn.2022.00031","DOIUrl":null,"url":null,"abstract":"Creatine is a metabolite that plays an important role in maintaining brain, heart, and muscle function [1]. It is synthesized in the kidney, liver, and pancreas by arginine glycine acyltransferase (AGAT, chromosomal location 15q15.1) and guanidinoacetic acid methyl transferase (GAMT, chromosomal location 19p13.3), and it is trans-ported to the brain and muscle by the creatine transporter SLC6A8 [1]. Creatine is metabo-lized by creatine kinase to produce adenosine tri-phosphate, which maintains organ function [1]. Cerebral creatine deficiency syndromes (CCDS) are classified into three types: two autosomal re-cessive types, in which mutations in the peptide sequence of either AGAT or","PeriodicalId":33305,"journal":{"name":"Annals of Child Neurology","volume":" ","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2022-05-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Annals of Child Neurology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.26815/acn.2022.00031","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"Medicine","Score":null,"Total":0}
引用次数: 0
Abstract
Creatine is a metabolite that plays an important role in maintaining brain, heart, and muscle function [1]. It is synthesized in the kidney, liver, and pancreas by arginine glycine acyltransferase (AGAT, chromosomal location 15q15.1) and guanidinoacetic acid methyl transferase (GAMT, chromosomal location 19p13.3), and it is trans-ported to the brain and muscle by the creatine transporter SLC6A8 [1]. Creatine is metabo-lized by creatine kinase to produce adenosine tri-phosphate, which maintains organ function [1]. Cerebral creatine deficiency syndromes (CCDS) are classified into three types: two autosomal re-cessive types, in which mutations in the peptide sequence of either AGAT or