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Newborn screening and prompt treatment with a galactose\u2010free diet prevent the severe consequences of galactosemia, but clinical outcomes remain suboptimal. Five men and five women with classic galactosemia (mean age = 27.2\u2009\u00b1\u20095.47\u2009years) received comprehensive neurological and neuropsychological evaluations, electroencephalogram (EEG) and magnetic resonance imaging (MRI). MRI data from nine healthy controls (mean age = 30.22\u2009\u00b1\u20093.52\u2009years) were used for comparison measures. Galactosemia subjects experienced impaired memory, language processing, visual\u2010motor skills, and increased anxiety. Neurological examinations revealed tremor and dysarthria in six subjects. In addition, there was ataxia in three subjects and six subjects had abnormal gait. Mean full scale IQ was 80.4\u2009\u00b1\u200917.3. EEG evaluations revealed right\u2010sided abnormalities in five subjects and bilateral abnormalities in one subject. Compared to age\u2010 and gender\u2010matched controls, subjects with galactosemia had reduced volume in left cerebellum white matter, bilateral putamen, and left superior temporal sulcus. Galactosemia patients also had lower fractional anisotropy and higher radial diffusivity values in the dorsal and ventral language networks compared to the controls. Furthermore, there were significant correlations between neuropsychological test results and the T1 volume and diffusivity scalars. Our findings help to identify anatomic correlates to motor control, learning and memory, and language in subjects with galactosemia. The results from this preliminary assessment may provide insights into the pathophysiology of this inborn error of metabolism.<\/jats:p>","DOI":"10.1002\/jimd.12279","type":"journal-article","created":{"date-parts":[[2020,6,27]],"date-time":"2020-06-27T11:20:31Z","timestamp":1593256831000},"page":"1205-1218","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Identification of neuronal structures and pathways corresponding to clinical functioning in galactosemia"],"prefix":"10.1002","volume":"43","author":[{"given":"Banu","family":"Ahtam","sequence":"first","affiliation":[{"name":"Department of Pediatrics Harvard Medical School  Boston Massachusetts USA"},{"name":"Fetal\u2010Neonatal Neuroimaging &amp; Developmental Science Center Boston Children's Hospital, Harvard Medical School  Boston Massachusetts USA"},{"name":"Division of Newborn Medicine Boston Children's Hospital  Boston Massachusetts USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susan E.","family":"Waisbren","sequence":"additional","affiliation":[{"name":"Department of Medicine Harvard Medical School  Boston Massachusetts USA"},{"name":"Division of Genetics and Genomics, Department of Pediatrics Boston Children's Hospital  Boston Massachusetts USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vera","family":"Anastasoaie","sequence":"additional","affiliation":[{"name":"Division of Genetics and Genomics, Department of Pediatrics Boston Children's Hospital  Boston Massachusetts USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gerard T.","family":"Berry","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Harvard Medical School  Boston Massachusetts USA"},{"name":"Division of Genetics and Genomics, Department of Pediatrics Boston Children's Hospital  Boston Massachusetts USA"},{"name":"The Manton Center for Orphan Disease Research Boston Children's Hospital  Boston Massachusetts USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matthew","family":"Brown","sequence":"additional","affiliation":[{"name":"Division of Genetics and Genomics, Department of Pediatrics Boston Children's Hospital  Boston Massachusetts USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stephanie","family":"Petrides","sequence":"additional","affiliation":[{"name":"Division of Genetics and Genomics, Department of Pediatrics Boston Children's Hospital  Boston Massachusetts USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Onur","family":"Afacan","sequence":"additional","affiliation":[{"name":"Computational Radiology Laboratory, Boston Children's Hospital Harvard Medical School  Boston Massachusetts USA"},{"name":"Department of Radiology, Boston Children's Hospital Harvard Medical School  Boston Massachusetts USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sanjay P.","family":"Prabhu","sequence":"additional","affiliation":[{"name":"Department of Radiology, Boston Children's Hospital Harvard Medical School  Boston Massachusetts USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Donald","family":"Schomer","sequence":"additional","affiliation":[{"name":"Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School  Boston Massachusetts USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P. 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