Neurogenetics

, Volume 6, Issue 3, pp 165–168 | Cite as

X-linked creatine transporter deficiency

Clinical description of a patient with a novel SLC6A8 gene mutation
  • Maria C. Schiaffino
  • Carlo Bellini
  • Laura Costabello
  • Ubaldo Caruso
  • Cornelis Jakobs
  • Gajja S. Salomons
  • Eugenio Bonioli
Short Communication

Abstract

Creatine transporter deficiency is an X-linked disorder characterized by mental retardation and language delay. The authors report a patient affected by creatine transport deficiency caused by a novel mutation in the SLC6A8 gene. Impairment in social interaction represents a consistent clinical finding in the few cases described to date and may be a diagnostic clue for creatine transporter deficiency in males affected by mental retardation, seizures, and language impairment.

Keywords

Creatine transporter deficiency SLC6A8 gene X-linked mental retardation 

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Copyright information

© Springer-Verlag 2005

Authors and Affiliations

  • Maria C. Schiaffino
    • 1
  • Carlo Bellini
    • 1
  • Laura Costabello
    • 1
  • Ubaldo Caruso
    • 1
  • Cornelis Jakobs
    • 2
  • Gajja S. Salomons
    • 2
  • Eugenio Bonioli
    • 1
    • 3
  1. 1.Department of Pediatrics, G. Gaslini InstituteState University of GenoaGenoaItaly
  2. 2.Department of Clinical Chemistry, Metabolic UnitVU University Medical CenterAmsterdamThe Netherlands
  3. 3.Dipartimento di Pediatria dell'Universita'GenoaItaly

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