Mental retardation and verbal dyspraxia in a new patient with de novo creatine transporter (SLC6A8) mutation

Am J Med Genet A. 2007 Aug 1;143A(15):1771-4. doi: 10.1002/ajmg.a.31827.


We report on a 9.5-year-old Italian boy affected by creatine transporter deficit (CT1), due to a de novo mutation in SLC6A8 gene. The patient was investigated by means of a comprehensive neuropsychological protocol and presented with an unusual alteration of speech and expressive-language function, associated with mental retardation, that differed from CT1 patients described to date. In particular, he exhibited a developmental apraxia of speech (DAS) with motor planning and execution deficit, while receptive language was consistent with his mental age.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Anticonvulsants / therapeutic use
  • Apraxias / genetics*
  • Child
  • Humans
  • Intellectual Disability / genetics*
  • Intelligence Tests
  • Male
  • Membrane Transport Proteins / genetics*
  • Mutation*
  • Seizures / drug therapy
  • Seizures / etiology


  • Anticonvulsants
  • Membrane Transport Proteins
  • creatine transporter