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guanidinoacetate methyltransferase deficiency

The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented. The content has been gathered in partnership with the MONDO Disease Ontology. Please consult with a healthcare professional for medical advice and treatment.

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Disease Overview

A creatine deficiency syndrome characterized by global developmental delay/intellectual disability (DD/ID), prominent speech delay, autistic/hyperactive behavioral disorders, seizures, and various types of pyramidal and/or extra-pyramidal manifestations.

Synonyms

  • CCDS2
  • GAMT deficiency
  • cerebral creatine deficiency syndrome 2
  • cerebral creatine deficiency syndrome type 2
  • creatine deficiency syndrome due to GAMT deficiency
  • disorder of guanidinoacetate N-methyltransferase activity
  • guanidinoacetate N-methyltransferase activity disease
  • guanidinoacetate methyltransferase deficiencyCCDS2
  • GAMT deficiency
  • cerebral creatine deficiency syndrome 2
  • cerebral creatine deficiency syndrome type 2
  • creatine deficiency syndrome due to GAMT deficiency
  • disorder of guanidinoacetate N-methyltransferase activity
  • guanidinoacetate N-methyltransferase activity disease
  • guanidinoacetate methyltransferase deficiency
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