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

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)165-168
Number of pages4
JournalNeurogenetics
Volume6
Issue number3
DOIs
Publication statusPublished - Sep 2005

Keywords

  • Creatine transporter deficiency
  • SLC6A8 gene
  • X-linked mental retardation

ASJC Scopus subject areas

  • Genetics(clinical)
  • Neuroscience(all)

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