Jaggumantri et al. recently published an open-label observational study to evaluate the effect of adjunct S-adenosyl methionine (SAM) in Creatine transporter (SLC6A8) deficiency. This X-linked condition is characterized by cerebral creatine deficiency, behavioral problems, seizures, hypotonia, and intellectual disability. Only some patients respond to high-dose oral creatine, glycine, and L-arginine supplementation.
SAM (50/mg/kg) was used in two male patients an effort to boost the intracerebral creatine synthesis. Issues with sleep and behavior were noted on this dosage in both patients. One of the two patients was lost in follow-up. The dose was progressively adjusted to 17 mg/kg/day in the other patient, which was well tolerated and led to significant improvement in speech/language skills, muscle mass, as well as, in activities related to communication and decision making described by the family.
This study raises the possibility that SAM may be used as an adjunctive therapy for patients with creatine transporter deficiency but further studies with increased sample size are needed to explore the significance of this finding.
Treatment of Creatine Transporter (SLC6A8) Deficiency With Oral S-Adenosyl methionine as Adjunct to L-arginine, Glycine, and Creatine Supplements. Jaggumantri S, Dunbar M, Edgar V, Mignone C, Newlove T, Elango R, Collet JP, Sargent M, Stockler-Ipsiroglu S, van Karnebeek CD. Pediatr Neurol. 2015 May 16. pii: S0887-8994(15)00231-3. doi: 10.1016/j.pediatrneurol.2015.05.006. PMID: 26205312
Posted by Yannis Trakadis, MD