Current and potential new treatment strategies for creatine deficiency syndromes.
Level 5 - mechanism / opinion, no new human data
Narrative review without primary clinical data or systematic search methodology
PubMed 34972654 · doi:10.1016/j.ymgme.2021.12.005
What was done
The authors reviewed literature on creatine metabolism and creatine deficiency syndromes caused by mutations in GATM, GAMT, and SLC6A8, evaluating current clinical management approaches and emerging therapeutic strategies.
What was found
AGAT and GAMT deficiencies can be treated with high-dose oral creatine supplementation because the SLC6A8 transporter remains functional at the blood-brain barrier. In contrast, existing treatment strategies for creatine transporter deficiency benefit approximately one-third of patients and do not completely reverse the clinical phenotype. The abstract reports no specific quantitative outcomes or statistical metrics.
Why it matters
This review highlights the critical treatment gap between enzymatic creatine synthesis disorders and transporter deficiency, emphasizing the necessity of novel therapeutics capable of bypassing the defective SLC6A8 blood-brain barrier transport mechanism.
Limits
This is a narrative review with no original data, systematic search protocol, or meta-analysis reported in the abstract. Specific criteria defining treatment benefit, underlying sample sizes, and detailed intervention protocols were not provided.
Cited by
- supports Circulating creatine has limited permeability and poorly crosses the blood-brain barrier.