X-linked Creatine Transporter Deficiency

About the Disease
Cerebral Creatine Deficiency Syndrome 1, also known as creatine transporter deficiency, is related to cerebral creatine deficiency syndrome 3 and cerebral creatine deficiency syndrome 2, and has symptoms including constipation, muscle spasticity and seizures. An important gene associated with Cerebral Creatine Deficiency Syndrome 1 is SLC6A8 (Solute Carrier Family 6 Member 8), and among its related pathways/superpathways are Metabolism and Regulation of expression of SLITs and ROBOs. The drug Creatine has been mentioned in the context of this disorder. Affiliated tissues include brain, heart and eye, and related phenotypes are intellectual disability and global developmental delay

Common Targets
G6535

The "Target / Biomarker Review Report" is a comprehensive and customizable review of hundreds up to thousends of related scientific research literature by AI technology, covering specific information about the Target(s) / Biomarker(s) of your choice related to X-linked Creatine Transporter Deficiency, including but not limited to:
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