Cerebral creatine deficiency

Cerebral creatine deficiencies (CCD's) are a small group of disorders mainly concerned with creatine biosynthesis and utilization in the brain at the blood-brain interface. The most common CCD is:

creatine transporter defect (CTD), an X-linked condition caused by mutations in the SLC6A8 gene.

The two other forms of CCD are creatine enzymatic defects (CED's) in creatine biosynthesis, i.e. the enzyme deficiencies:

Arginine:glycine amidinotransferase deficiency (AGAT deficiency), caused by variants in GATM and
guanidinoacetate methyltransferase deficiency (GAMT deficiency), caused by variants in GAMT.^[1]

References

↑ Braissant, O.; Henry, H.; Béard, E.; Uldry, J. P. (2011). "Creatine deficiency syndromes and the importance of creatine synthesis in the brain". Amino Acids. 40 (5): 1315–1324. doi:10.1007/s00726-011-0852-z. PMID 21390529.

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[ccdreview-1] Braissant, O.; Henry, H.; Béard, E.; Uldry, J. P. (2011). "Creatine deficiency syndromes and the importance of creatine synthesis in the brain". Amino Acids. 40 (5): 1315–1324. doi:10.1007/s00726-011-0852-z. PMID 21390529.