Creatine supplementation in 5-year-old linked to greater muscle mass, strength, and coordination

Abstract: Background: Creatine transporter deficiency is an inborn error of metabolism caused by a deficiency in the creatine transporter protein encoded by the SLC6A8 gene. Previous treatment with creatine supplementation, either alone or in combination with creatine precursors (arginine or glycine), has been attempted; the efficacy of therapy, however, remains controversial. Methods and Results: To analyze the treatment efficacy of high-dose creatine supplementation on creatine transporter deficiency, we reported a child diagnosed with creatine transporter deficiency, who was treated with a conventional dose of creatine (400 mg/kg/d) for 1 month, then twice the dose (800 mg/kg/d) for 2 months, and finally 3 times the dose (1200 mg/kg/d) for 3 months. The patient tolerated the treatment well and showed improvements in muscle mass and strength when the creatine dose was gradually increased to 1200 mg/kg/d. However, when assessed by proton magnetic resonance spectroscopy (H-MRS), the brain creatine concentration did not increase, and there was no improvement in speech and neurodevelopmental symptoms. Conclusion: We conclude that high-dose creatine supplementation (1200 mg/kg/d) alone improved muscular symptoms, but did not improve cognitive symptoms and brain creatine concentration assessed using H-MRS. Therefore, new treatment strategies are required for the management of creatine transporter deficiency.

ACD Summary: This report describes treatment of a 5-year-old boy (diagnosed with CTD at 3.25 years old) with high-dose creatine supplementation, beginning at 4.5 years of age. The dose of creatine supplementation increased over the course of 6 months, up to 1200 mg per kg per day. While there was no significant improvement in cognition function or brain creatine levels, there was improvement in muscle mass, strength, and coordination.

Parent Summary: This report describes treatment of a 5-year-old boy (diagnosed with CTD at 3.25 years old) with high-dose creatine supplementation, beginning at 4.5 years of age. The dose of creatine supplementation increased over the course of 6 months, up to 1200 mg per kg per day. While there was no significant improvement in cognition function or brain creatine levels, there was improvement in muscle mass, strength, and coordination.

Link to free article: Treatment efficacy of high-dose creatine supplementation in a child with creatine transporter (SLC6A8) deficiency

Link to PubMed: PubMed

Authors: Kaili Shi, Huimin Zhao, Shuming Xu, Hong Han, Wenjuan Li

Key Terms: CTD, clinical study, Supplements, MRS, pediatric patient, male patient