{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T08:11:15Z","timestamp":1791101475241,"version":"4.1.0"},"reference-count":75,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2006,7,11]],"date-time":"2006-07-11T00:00:00Z","timestamp":1152576000000},"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":[[2006,8]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Classical galactosaemia (McKusick 230400) is an: autosomal recessive disorder of galactose metabolism, caused by a deficiency of the enzyme galactose\u20101\u2010phosphate uridyltransferase (GALT; EC 2.7.712). Most patients present in the neonatal period, after ingestion of galactose, with jaundice, hepatosplenomegaly, hepatocellular insufficiency, food intolerance, hypoglycaemia, renal tubular dysfunction, muscle hypotonia, sepsis and cataract. The gold standard for diagnosis of classical galactosaemia is measurement of GALT activity in erythrocytes. Gas\u2010chromatographic determination of urinary sugars and sugar alcohols demonstrates elevated concentrations of galactose and galactitol. The only therapy for patients with classical galactosaemia is a galactose\u2010restricted diet, and initially all galactose must be removed from the diet as soon as the diagnosis is suspected. After the neonatal period, a lactose\u2010free diet is advised in most countries, without restriction of galactose\u2010containing fruit and vegetables. In spite of the strict diet, long\u2010term complications such as retarded mental development, verbal dyspraxia, motor abnormalities and hypergonadotrophic hypogonadism are frequently seen in patients with classical galactosaemia. It has been suggested that these complications may result from endogenous galactose synthesis or from abnormal galactosylation. Novel therapeutic strategies, aiming at the prevention of galactose 1\u2010phosphate production, should be developed. In the meantime, the follow\u2010up protocol for patients with GALT deficiency should focus on early detection, evaluation and, if possible, early intervention in problems of motor, speech and cognitive development.<\/jats:p>","DOI":"10.1007\/s10545-006-0382-0","type":"journal-article","created":{"date-parts":[[2006,7,12]],"date-time":"2006-07-12T04:53:56Z","timestamp":1152680036000},"page":"516-525","source":"Crossref","is-referenced-by-count":245,"title":["Classical galactosaemia revisited"],"prefix":"10.1002","volume":"29","author":[{"given":"Annet M.","family":"Bosch","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Division of Metabolic Disorders, Academic Medical Centre (G8 205) University Hospital of Amsterdam Meibergdreef 9 Amsterdam 1105 AZ The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2006,7,11]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02143811"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.12.1821"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/deg058"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00711320"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(95)91745-4"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1006\/mgme.2001.3151"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2003.08.026"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00439251"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1022875629436"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.2003.037671"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.113.5.e423"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9330"},{"issue":"735","key":"e_1_2_1_14_1","first-page":"549","article-title":"Galactose conversion to d\u2010xylulose. 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