High frequency of creatine deficiency syndromes in patients with unexplained mental retardation

Neurology. 2006 Nov 14;67(9):1713-4. doi: 10.1212/01.wnl.0000239153.39710.81.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Amidinotransferases / genetics
  • Brain / enzymology*
  • Brain / pathology
  • Brain / physiopathology
  • Brain Diseases, Metabolic, Inborn / complications*
  • Brain Diseases, Metabolic, Inborn / enzymology*
  • Brain Diseases, Metabolic, Inborn / genetics
  • Child
  • Child, Preschool
  • Chromosome Disorders / enzymology
  • Chromosome Disorders / genetics
  • Chromosome Disorders / physiopathology
  • Creatine / deficiency*
  • Creatine / genetics
  • Creatinine / metabolism
  • DNA Mutational Analysis
  • Female
  • Genes, Recessive / genetics
  • Genetic Diseases, X-Linked / enzymology
  • Genetic Diseases, X-Linked / genetics
  • Genetic Diseases, X-Linked / physiopathology
  • Genetic Predisposition to Disease / genetics*
  • Genetic Testing
  • Guanidinoacetate N-Methyltransferase / genetics
  • Humans
  • Intellectual Disability / enzymology*
  • Intellectual Disability / etiology*
  • Intellectual Disability / genetics
  • Magnetic Resonance Spectroscopy
  • Male
  • Membrane Transport Proteins / genetics
  • Prospective Studies
  • Sex Factors

Substances

  • Membrane Transport Proteins
  • creatine transporter
  • Creatinine
  • GAMT protein, human
  • Guanidinoacetate N-Methyltransferase
  • Amidinotransferases
  • glycine amidinotransferase
  • Creatine