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Creatine deficiency syndrome

Disease definition

Creatine deficiency syndrome (CDS) comprises a group of inborn errors of creatine metabolism, characterized by a global developmental delay, intellectual disability and associated neurological (seizures, movement disorders, myopathy) and behavioral manifestions. CDS includes two creatine biosynthesis disorders; guanidinoacetate methyltransferase deficiency and L- Arginine: glycine amidinotransferase deficiency, as well as X-linked creatine transporter deficiency.


Classification level: Group of disorders
  • Synonym(s):
    • CCDS
    • CDS
    • Cerebral creatine deficiency syndrome
  • Prevalence: Unknown
  • Inheritance: X-linked recessive or Not applicable or Autosomal recessive 
  • Age of onset: Infancy, Childhood
  • ICD-10: E72.8
  • OMIM: -
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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