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.
BENEFITS OF GENETIC TESTING
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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