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L-Arginine:glycine amidinotransferase deficiency

Disease definition

L-Arginine:glycine amidinotransferase (AGAT) deficiency is a very rare type of creatine deficiency sydrome characterized by global developmental delay, intellectual disability, and myopathy.

ORPHA:35704

  • Synonym(s):
    • AGAT deficiency
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy
  • ICD-10: E72.8
  • OMIM: 612718
  • UMLS: C2675179
  • MeSH: -
  • GARD: 10323
  • MedDRA: -

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