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References OMIM Gene GeneReviews HGMD HGNC
last update : 17-03-2021
Symbol CRTRD
Location Xq28
Name creatine deficiency syndrome
Other name(s) mental retardation with creatine transport deficiency
Corresponding gene SLC6A8
Main clinical features
  • characterized by seizures, autistic behavior, absent speech, developmental delay and hypotonia, mental retardation, midface hypoplasia, progressive intestinal, muscular and neurological deterioration, absence of brain creatin by proton magnetic resonance spectroscopy non reversible by creatin administration
  • Genetic determination sex linked
    Prevalence 1p100 of males with mental retardation ofunknown etiology
    Function/system disorder metabolism/aminoacids
    Type disease
  • potential of S-adenosyl methionine as an adjunctive therapy for creatine transporter deficiency patients (PMID: 26205312))