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The main characteristics are developmental delay, seizures, and ataxia. In this paper we report the clinical and biochemical characteristics of a 5\u2010year\u2010old girl with a defective galactosylation of N\u2010glycans, resulting in developmental delay, muscular hypotonia, epileptic seizures, inverted nipples, and visual impairment. Next generation sequencing revealed a <jats:italic>de novo<\/jats:italic> mutation (c.797G\u2009&gt;\u2009T, p.G266V) in the X\u2010chromosomal gene <jats:italic>SLC35A2<\/jats:italic> (solute carrier family 35, UDP\u2010galactose transporter, member A2; MIM 300896). While this mutation was found heterozygous, random X\u2010inactivation of the normal allele will lead to loss of normal SLC35A2 activity in respective cells. The functional relevance of the mutation was demonstrated by complementation of UGT\u2010deficient MDCK\u2010RCA<jats:sup>r<\/jats:sup> and CHO\u2010Lec8 cells by normal UGT\u2010expression construct but not by the mutant version. The effect of dietary galactose supplementation on glycosylation was investigated, showing a nearly complete normalization of transferrin glycosylation.<\/jats:p>","DOI":"10.1007\/s10545-015-9828-6","type":"journal-article","created":{"date-parts":[[2015,3,16]],"date-time":"2015-03-16T11:06:45Z","timestamp":1426504005000},"page":"931-940","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":78,"title":["A new case of UDP\u2010galactose transporter deficiency (SLC35A2\u2010CDG): molecular basis, clinical phenotype, and therapeutic approach"],"prefix":"10.1002","volume":"38","author":[{"given":"K.","family":"D\u00f6rre","sequence":"first","affiliation":[{"name":"Universit\u00e4tsklinikum M\u00fcnster Klinik f\u00fcr Kinder\u2010und Jugendmedizin Albert\u2010Schweitzer\u2010Campus 1 Muenster 48149 Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Olczak","sequence":"additional","affiliation":[{"name":"Laboratory of Biochemistry, Faculty of Biotechnology University of Wroclaw Wroclaw Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Y.","family":"Wada","sequence":"additional","affiliation":[{"name":"Osaka Medical Center and Research Institute for Maternal and Child Health 840 Murodo\u2010cho Izumi Osaka 594\u20101101 Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Sosicka","sequence":"additional","affiliation":[{"name":"Laboratory of Biochemistry, Faculty of Biotechnology University of Wroclaw Wroclaw Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Gr\u00fcneberg","sequence":"additional","affiliation":[{"name":"Universit\u00e4tsklinikum M\u00fcnster Klinik f\u00fcr Kinder\u2010und Jugendmedizin Albert\u2010Schweitzer\u2010Campus 1 Muenster 48149 Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Reunert","sequence":"additional","affiliation":[{"name":"Universit\u00e4tsklinikum M\u00fcnster Klinik f\u00fcr Kinder\u2010und Jugendmedizin Albert\u2010Schweitzer\u2010Campus 1 Muenster 48149 Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Kurlemann","sequence":"additional","affiliation":[{"name":"Universit\u00e4tsklinikum M\u00fcnster Klinik f\u00fcr Kinder\u2010und Jugendmedizin Albert\u2010Schweitzer\u2010Campus 1 Muenster 48149 Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.","family":"Fiedler","sequence":"additional","affiliation":[{"name":"Universit\u00e4tsklinikum M\u00fcnster Klinik f\u00fcr Kinder\u2010und Jugendmedizin Albert\u2010Schweitzer\u2010Campus 1 Muenster 48149 Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Biskup","sequence":"additional","affiliation":[{"name":"Praxis f\u00fcr Humangenetik und CeGaT GmbH T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"H\u00f6rtnagel","sequence":"additional","affiliation":[{"name":"Praxis f\u00fcr Humangenetik und CeGaT GmbH T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Rust","sequence":"additional","affiliation":[{"name":"Universit\u00e4tsklinikum M\u00fcnster Klinik f\u00fcr Kinder\u2010und Jugendmedizin Albert\u2010Schweitzer\u2010Campus 1 Muenster 48149 Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.","family":"Marquardt","sequence":"additional","affiliation":[{"name":"Universit\u00e4tsklinikum M\u00fcnster Klinik f\u00fcr Kinder\u2010und Jugendmedizin Albert\u2010Schweitzer\u2010Campus 1 Muenster 48149 Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,3,17]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clinbiochem.2007.08.015"},{"issue":"6","key":"e_1_2_9_3_1","first-page":"305","article-title":"Molekualrgenetische und zytogenetische Diagnostik. 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