X-linked creatine transporter deficiency
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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.
KeywordsCreatine transporter deficiency SLC6A8 gene X-linked mental retardation
- 1.McKusick VA (2004) Online Mendelian Inheritance in Man, OMIM (TM). McKusick–Nathans Institute for Genetic Medicine, Johns Hopkins University, Baltimore, MD, and National Center for Biotechnology Information, National Library of Medicine, Bethesda, MDGoogle Scholar
- 3.Mancini GM, Catsman-Berrevoets CE, de Coo IF, Aarsen FK, Kamphoven JH, Huijmans JG, Duran M, van der Knaap MS, Jakobs C, Salomons GS (2004) Two novel mutations in SLC6A8 cause creatine transporter defect and distinctive X-linked mental retardation in two unrelated Dutch families. Am J Med Genet A 132A:288–295Google Scholar