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Article

The screening of SLC6A8 deficiency among Estonian families with X-linked mental retardation.

Journal of inherited metabolic disease - 1 Dec 2010

Puusepp H, Kall K, Salomons G S, Talvik I, Männamaa M, Rein R, Jakobs C, Õunap K

Abstract excerpt

The urinary creatine:creatinine (Cr:Crn) ratio was measured in males from 49 families with a family history compatible with X-linked mental retardation (XLMR) in order to estimate the prevalence of SLC6A8 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>A; p.Gly424Asp) was identified. Their...

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PMID: 24137762
DOI: 10.1007/s10545-008-1063-y

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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