Courtagen Life Sciences Blog

Quick Case: Creatine Supplementation as Treatment for Seizure Disorder

Posted by Courtagen Staff on May 16, 2016 2:48:26 PM
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Ngoc Minh Le, M.D., pediatric neurologist and Medical Consultant for Courtagen Life Sciences, presents the case of a 6-year-old patient who presented with global developmental delay, seizures, GI issues, and behavioral problems. Courtagen's epiSEEK® panel revealed a mutation on the SLC6A8 gene that is consistent with Creatine Transporter Deficiency Syndrome. After being placed on high-dose creatine monohydrate, arginine, and glycine, the patient became seizure free and his GI issues improved.





In this case, genetic testing identified creatine transporter deficiency syndrome as the casue of the patient's symptoms, well before traditional chemical testing. Genetic testing also showed that creatine transporter deficiency syndrome has x-linked recessive inheritance, meaning the patient's mother has a 50% risk of having another affected male child.  

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Topics: Epilepsy, Seizure Disorders, Genetic Testing, Developmental Delay