{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,13]],"date-time":"2026-01-13T05:53:38Z","timestamp":1768283618891,"version":"3.49.0"},"reference-count":18,"publisher":"Wiley","issue":"S3","license":[{"start":{"date-parts":[[2009,1,10]],"date-time":"2009-01-10T00:00:00Z","timestamp":1231545600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2010,12]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>The urinary creatine:creatinine (Cr:Crn) ratio was measured in males from 49 families with a family history compatible with X\u2010linked mental retardation (XLMR) in order to estimate the prevalence of <jats:italic>SLC6A8<\/jats:italic> deficiency in Estonia. We identified 11 boys from 9 families with an increased urinary Cr:Crn ratio (18%). In three related boys, a hemizygous missense mutation (c.1271G&gt;A; p.Gly424Asp) was identified. Their mother was heterozygous for the same mutation. Although many missense mutations have been described, the p.Gly424Asp mutation has not been previously reported. The clinical expression varied widely among affected males of this family. Patients 1 and 3 had relatively mild clinical expression (mild mental retardation (MR) and attention deficit disorder), but patient 2 had all typical clinical signs of <jats:italic>SLC6A8<\/jats:italic> defect such as moderate MR, autistic features, expressive dysphasia and epilepsy. Among our patients, we saw significant problems in speech and language development combined with attention and behavioural difficulties. The number of false\u2010positive biochemical results with increased urinary Cr:Crn ratio was higher (18%) in our study than in previous reports (1.8\u201310%). We therefore suggest that repeated biochemical testing should be performed before DNA sequencing analysis. Our study suggests that 2% (95% confidence limits: 0.05\u201311.1%) of this Estonian XLMR panel are due to mutations in the <jats:italic>SLC6A8,<\/jats:italic> which is similar to the prevalence reported in other populations. We therefore conclude that creatine transporter deficiency is a relatively common genetic disorder in males with sporadic or familiar MR and diagnostic screening of them should always include screening for <jats:italic>SLC6A8<\/jats:italic> deficiency.<\/jats:p>","DOI":"10.1007\/s10545-008-1063-y","type":"journal-article","created":{"date-parts":[[2009,1,22]],"date-time":"2009-01-22T11:44:35Z","timestamp":1232624675000},"page":"5-11","source":"Crossref","is-referenced-by-count":35,"title":["The screening of <i>SLC6A8<\/i> deficiency among Estonian families with X\u2010linked mental retardation"],"prefix":"10.1002","volume":"33","author":[{"given":"H.","family":"Puusepp","sequence":"first","affiliation":[{"name":"Department of Paediatrics University of Tartu 6 Lunini Street Tartu 50406 Estonia"},{"name":"Department of Biotechnology Institute of Molecular and Cell Biology Tartu Estonia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K.","family":"Kall","sequence":"additional","affiliation":[{"name":"Central Laboratory of Health Protection Inspectorate Tallinn Estonia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G. 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