{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T13:36:06Z","timestamp":1762004166972},"reference-count":14,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2009,5,8]],"date-time":"2009-05-08T00:00:00Z","timestamp":1241740800000},"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":[[2009,6]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Classical galactosaemia is relatively common in Ireland due to a high carrier rate of the Q188R <jats:italic>GALT<\/jats:italic> mutation. It is screened for using a bacterial inhibition assay (BIA) for free galactose. A Beutler assay on day one of life is performed only in high risk cases (infants of the Traveller community and relatives of known cases). A 16\u2010month\u2010old Irish\u2010born boy of Nigerian origin was referred for investigation of developmental delay, and failure to thrive. He had oral aversion to solids and his diet consisted of cow's milk and milk\u2010based cereal mixes. He was found to have microcephaly, weight &lt;2nd percentile, hepatomegaly and bilateral cataracts. Coagulation screen was normal and transaminases were slightly elevated. His original newborn screen was reviewed and confirmed to have been negative; urinary reducing substances on three separate occasions were negative. Beutler assay demonstrated \u201cabsent\u201d red cell galactose\u20101\u2010phosphate uridyltransferase (GALT) activity. GALT enzyme activity was &lt;0.5 gsubs\/h per gHb confirming classical galactosaemia. Gal\u20101\u2010P was elevated at 1.88 \u03bcmol\/gHb. Mutation analysis of the <jats:italic>GALT<\/jats:italic> gene revealed S135L homozygosity. S135L\/S135L galactosaemia is associated with absent red cell GALT activity but with approximately 10% activity in other tissues such as the liver and intestines, probably explaining the negative screening tests and the somewhat milder phenotype associated with this genotype. The patient was commenced on galactose\u2010restricted diet; on follow\u2010up at 2 years of age, growth had normalized but there was global developmental delay. In conclusion, galactosaemia must be considered in children who present with poor growth, hepatomegaly, developmental delay and cataracts and GALT enzyme analysis should be a first line test in such cases. Non\u2010enzymatic screening methods such as urinary reducing substances and BIA for free galactose are not reliable in S135L homozygous galactosaemia.<\/jats:p>","DOI":"10.1007\/s10545-009-1081-4","type":"journal-article","created":{"date-parts":[[2009,5,5]],"date-time":"2009-05-05T17:40:41Z","timestamp":1241545241000},"page":"412-415","source":"Crossref","is-referenced-by-count":22,"title":["Negative screening tests in classical galactosaemia caused by S135L homozygosity"],"prefix":"10.1002","volume":"32","author":[{"given":"E.","family":"Crushell","sequence":"first","affiliation":[{"name":"National Centre for Inherited Metabolic Disorders Children's University Hospital Temple St Dublin 1 Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Chukwu","sequence":"additional","affiliation":[{"name":"National Centre for Inherited Metabolic Disorders Children's University Hospital Temple St Dublin 1 Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Mayne","sequence":"additional","affiliation":[{"name":"Department of Chemical Pathology Children's University Hospital Temple St Dublin 1 Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Blatny","sequence":"additional","affiliation":[{"name":"Department of Haematology Children's University Hospital Temple St Dublin 1 Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E. P.","family":"Treacy","sequence":"additional","affiliation":[{"name":"National Centre for Inherited Metabolic Disorders Children's University Hospital Temple St Dublin 1 Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2009,5,8]]},"reference":[{"key":"e_1_2_5_2_1","first-page":"16","article-title":"Galactosaemia\u2013a controversial disorder. Screening and outcome, Ireland 1972\u20131992","volume":"89","author":"Badawi N","year":"1996","journal-title":"Irish Med J"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-200009000-00010"},{"key":"e_1_2_5_4_1","first-page":"137","article-title":"A simple spot screening test for galactosaemia","volume":"68","author":"Beutler E","year":"1966","journal-title":"J Lab Clin Med"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2431-2-7"},{"key":"e_1_2_5_6_1","first-page":"1553","volume-title":"The Metabolic and Molecular Bases of Inherited Disease","author":"Holton JB","year":"2001"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1006\/mgme.2001.3230"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(96)70432-8"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(97)70286-5"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200327"},{"key":"e_1_2_5_11_1","volume-title":"6th International Society of Neonatal Screening European Regional Meeting","author":"Roche G","year":"2009"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02072514"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9343(65)90160-9"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1999)13:6<417::AID-HUMU1>3.0.CO;2-0"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01800204"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-009-1081-4","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1007\/s10545-009-1081-4","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-009-1081-4","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T18:09:44Z","timestamp":1694801384000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-009-1081-4"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,5,8]]},"references-count":14,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2009,6]]}},"alternative-id":["10.1007\/s10545-009-1081-4"],"URL":"https:\/\/doi.org\/10.1007\/s10545-009-1081-4","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,5,8]]}}}