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Orphanet References OMIM Gene GeneReviews HGMD HGNC
last update : 29-05-2013
Symbol GATM
Location 15q21.1
Name mental retardation and severe language delay
Other name(s)
  • AGAT deficiency
  • GATM deficiency
  • creatine deficiency syndrome
  • Corresponding gene GATM
    Other symbol(s) AGAT
    Main clinical features
  • developmental delay/regression, mental retardation, intractable seizures and movement disorder, severe disturbance of their expressive and cognitive speech
  • brain creatine deficiency detected by in vivo proton magnetic resonance spectroscopy, treatable by creatine oral administration leading to complete restoration of brain creatine level
  • Genetic determination autosomal recessive
    Function/system disorder metabolism/aminoacids
    Type disease