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

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