X-Linked Cerebral Creatine Deficiency Syndrome with Prolonged QT Interval: A Case Report

Q4 Medicine
Hyewon Kim, Ji Kyoung Park, Jeong Eun Lee, K. Lee, B. Lee
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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
QT间期延长的X连锁脑肌酸缺乏综合征1例
肌酸是一种代谢产物,在维持大脑、心脏和肌肉功能方面发挥着重要作用[1]。它在肾脏、肝脏和胰腺中由精氨酸-甘氨酸酰基转移酶(AGAT,染色体位置15q15.1)和胍乙酸甲基转移酶(GAMT,染色体位置19p13.3)合成,并通过肌酸转运蛋白SLC6A8转运至大脑和肌肉[1]。肌酸通过肌酸激酶代谢产生三磷酸腺苷,维持器官功能[1]。脑肌酸缺乏综合征(CCDS)分为三种类型:两种常染色体复切型,其中AGAT或
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来源期刊
Annals of Child Neurology
Annals of Child Neurology Medicine-Pediatrics, Perinatology and Child Health
CiteScore
0.50
自引率
0.00%
发文量
35
审稿时长
8 weeks
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