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Cerebral creatine deficiency

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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:

  • L-arginine:glycine amidinotransferase deficiency, and
  • guanidinoacetate methyltransferase deficiency.

    • References

    Cerebral creatine deficiency Wikipedia
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