X-gebonden mentale retardatie door creatine transporter defect

Translated title of the contribution: X-linked mental retardation due to creatine transporter defect

S. W.K. De Kort, S. A. De Man, A. J.M. Hoogeboom, P. J.W. Pouwels, M. S. Van Der Knaap, G. M.S. Mancini, G. S. Salomons

Research output: Contribution to journalArticleAcademicpeer-review


Two boys, aged 4 and 8 years, consulted a pediatrician for psychomotor and severe language/speech delay. Both patients showed growth deficiency and a gracile muscular system. Further investigation revealed an increased urinary creatine/creatinine ratio. DNA sequence analysis of SLC6A8 on the X-chromosome revealed two different mutations resulting in creatine transporter defect. Creatine transporter defect is a recently described cause of X-linked mental retardation that appears to be relatively frequent. The disease is characterized by the neuropsychological profile with mental retardation, ADHD, semantic-pragmatic language disorder and oral dyspraxia. The diagnosis is based on a combination of at least two tests: assessment of the urinary creatine/creatinine ratio, 1H-MRS of the brain, DNA sequence analysis of SLC6A8 or creatine uptake assay in cultured fibroblasts. Every male patient with mental retardation, speech/language disorder and/or growth deficiency should be screened for creatine transporter defect.

Translated title of the contributionX-linked mental retardation due to creatine transporter defect
Original languageDutch
Pages (from-to)173-178
Number of pages6
JournalTijdschrift voor kindergeneeskunde
Issue number5
Publication statusPublished - 1 Oct 2006

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