Hanna-El-Daher · Amino acids 2016 · narrative review · n=?

Creatine synthesis and exchanges between brain cells: What can be learned from human creatine deficiencies and various experimental models?

Cited 67 times in the scientific literature.

Level 5 - mechanism / opinion, no new human data

Narrative review synthesizing mechanistic, animal, and clinical observation data without systematic methodology

PubMed 26861125 · doi:10.1007/s00726-016-2189-0 · record verified 2026-08-29

What was done

This narrative review synthesized experimental models and clinical/biochemical data from human creatine deficiency syndromes (AGAT, GAMT, and SLC6A8 deficiencies). The authors evaluated evidence regarding cerebral creatine synthesis, blood-brain and blood-cerebrospinal fluid barrier transport mechanisms, intercellular creatine exchange, and the neurotoxicity of guanidinoacetate.

What was found

The abstract reports no numerical data. It summarizes qualitative mechanistic findings: the creatine synthesis enzymes AGAT and GAMT are expressed directly within the brain; the creatine transporter SLC6A8 is present on blood-brain barrier microcapillary endothelial cells but absent on adjacent astrocytes (limiting peripheral permeability); and genetic defects in AGAT, GAMT, or SLC6A8 cause severe central nervous system creatine deficiencies alongside potential guanidinoacetate neurotoxicity in GAMT deficiency.

Why it matters

This review clarifies why systemic creatine supplementation has limited efficacy in certain neurological conditions like SLC6A8 deficiency and underscores the necessity of targeting endogenous intracerebral synthesis or transport bypass pathways.

Limits

The abstract provides a purely narrative synthesis without systematic search criteria, quality appraisal, or quantitative pooling of patient outcomes. Numerical measures, sample sizes, and effect sizes are entirely absent.

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