Creatine Disorders

  • Sylvia StöcklerEmail author
  • Olivier Braissant
  • Andreas Schulze


Reduced creatine levels in the brain and in body fluids/tissues are the common denominator of primary (AGAT, GAMT, X-linked creatine transporter (SLC6A8) deficiency) and secondary (OAT deficiency) creatine disorders. Developmental delay/intellectual disability, speech delay, and behavioral problems, combined with epilepsy, and movement disorders are characteristic clinical features of primary creatine deficiency syndromes. Chorioretinal degeneration is the clinical hallmark of OAT deficiency. Diagnostic markers include high (GAMT) or low (AGAT) levels of guanidinoacetate, a high urinary creatine excretion (SLC6A8 deficiency), and high plasma ornithine levels (OAT deficiency). Treatments comprise substitution of creatine (AGAT deficiency) combined with l-ornithine (GAMT deficiency) and arginine-restricted diet (GAMT and OAT deficiency). Administration of creatine and of substrates for intracerebral creatine synthesis (l-arginine and l-glycine) have limited therapeutic effects in CrT deficiency. Despite availability of causal treatments and improved outcomes after early recognition, creatine disorders are still under-recognized. All patients with unexplained developmental delay/intellectual disability should be screened for these disorders.


Intellectual Disability Creatine Supplementation Creatine Monohydrate Creatine Transporter Creatine Synthesis 
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Copyright information

© Springer-Verlag Berlin Heidelberg 2014

Authors and Affiliations

  • Sylvia Stöckler
    • 1
    Email author
  • Olivier Braissant
    • 2
  • Andreas Schulze
    • 3
  1. 1.Division of Biochemical DiseasesBC Children’s Hospital, University of British ColumbiaVancouverCanada
  2. 2.Service of Biomedicine, Department of LaboratoriesUniversity Hospital of LausanneLausanneSwitzerland
  3. 3.Division of Clinical and Metabolic Genetics, Department of PediatricsThe Hospital for Sick Children, University of TorontoTorontoCanada

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