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Early initiation of a galactose\u2010restricted diet can prevent or resolve neonatal complications. Despite therapy, patients often experience long\u2010term complications including speech impairment, learning disabilities, and premature ovarian insufficiency in females. This study evaluates clinical outcomes in 34 galactosemia patients with markedly reduced GALT activity and compares outcomes between patients with different levels of mean galactose\u20101\u2010phosphate in red blood cells (GAL1P) using logistic regression: group 1 (<jats:italic>n<\/jats:italic>\u2009=\u200913) GAL1P \u22641.7 mg\/dL vs. group 2 (<jats:italic>n<\/jats:italic>\u2009=\u200921) GAL1P\u2009\u2265\u20092 mg\/dL. Acute symptoms at birth were comparable between groups (<jats:italic>p<\/jats:italic>\u2009=\u20090.30) with approximately 50% of patients presenting with jaundice, liver failure, and failure\u2010to\u2010thrive. However, group 2 patients had significantly higher prevalence of negative long\u2010term outcomes compared to group 1 patients (<jats:italic>p<\/jats:italic>\u2009=\u20090.01). Only one of 11 patients &gt;3 yo in group 1 developed neurological and severe behavioral problems of unclear etiology. In contrast, 17 of 20 patients &gt;3 yo in group 2 presented with one or more long\u2010term complications associated with galactosemia. The majority of females \u226515 yo in this group also had impaired ovarian function with markedly reduced levels of anti\u2010M\u00fcllerian hormone. These findings suggest that galactosemia patients with higher GAL1P levels are more likely to have negative long\u2010term outcome. Therefore, evaluation of GAL1P levels on a galactose\u2010restricted diet might be helpful in providing a prognosis for galactosemia patients with rare or novel genotypes whose clinical presentations are not well known.<\/jats:p>","DOI":"10.1007\/s10545-018-0136-9","type":"journal-article","created":{"date-parts":[[2018,1,19]],"date-time":"2018-01-19T11:13:10Z","timestamp":1516360390000},"page":"197-208","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":23,"title":["Biochemical changes and clinical outcomes in 34 patients with classic galactosemia"],"prefix":"10.1002","volume":"41","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5567-0704","authenticated-orcid":false,"given":"Tatiana","family":"Yuzyuk","sequence":"first","affiliation":[{"name":"Department of Pathology University of Utah Salt Lake City UT USA"},{"name":"ARUP Laboratories 500 Chipeta Way Salt Lake City UT 84108 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