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

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Abstract

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.

Original languageDutch
Pages (from-to)173-178
Number of pages6
JournalTijdschrift voor Kindergeneeskunde
Volume74
Issue number5
Publication statusPublished - 1 Oct 2006

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