{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,25]],"date-time":"2025-11-25T20:43:49Z","timestamp":1764103429023,"version":"3.40.5"},"reference-count":20,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2023,8,11]],"date-time":"2023-08-11T00:00:00Z","timestamp":1691712000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Annals of Human Genetics"],"published-print":{"date-parts":[[2023,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label\/><jats:p>Classic galactosemia (OMIM#230400) is an autosomal recessive inborn error of carbohydrate metabolism caused by a deficiency of the galactose\u20101\u2010phosphate\u2010uridyl\u2010transferase enzyme encoded by the <jats:italic>GALT<\/jats:italic> gene. Even though a galactose\u2010restricted diet efficiently resolves the acute complications, it is insufficient to prevent long\u2010term complications regarding speech defects, intellectual functioning, premature ovarian failure, cataract, hepatomegaly, dysarthria, ataxia, and tremor. Seventy\u2010seven patients who were genetically diagnosed with classic galactosemia were included in this cohort. Identified novel variants were classified based on their predicted effect on the GALT function. Further, potential genotype\u2013phenotype correlations were investigated via statistical analysis. In total, 18 different sequence variants were identified, including four novels (c.200delG\/p.(Arg67Profs<jats:sup>*<\/jats:sup>19), c.533T&gt;G\/ p.(Met178Arg), c.708_709delGT\/p.(Ser236Argfs<jats:sup>*<\/jats:sup>30), c.467C&gt;A\/p.(Ser156<jats:sup>*<\/jats:sup>)). Jaundice was the most common short\u2010term finding with 80% (61\/77). Even with early diagnosis, intellectual disability is encountered with 36% (27\/74) of the long\u2010term complications. Patients with biallelic missense variants have a significantly higher prevalence of cataracts (OR: 17.9). Longitudinal observations showed attenuation of cataracts and hepatomegaly. This study has shown the <jats:italic>GALT<\/jats:italic> variation spectrum of the Turkish population with a 30\u2010year retrospective cohort, submitting a significant contribution to the genotype\/phenotype correlation in galactosemia. This study also highlights the cost\u2010effective importance of Sanger sequencing in the diagnosis of single\u2010gene metabolic diseases.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ahg.12523","type":"journal-article","created":{"date-parts":[[2023,8,11]],"date-time":"2023-08-11T07:05:11Z","timestamp":1691737511000},"page":"285-294","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Novel <i>GALT<\/i> variations and genetic spectrum in Turkish population with the correlation of genotype and phenotype"],"prefix":"10.1111","volume":"87","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5873-7433","authenticated-orcid":false,"given":"Irem","family":"Kalay","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Istanbul Faculty of Medicine Istanbul University Istanbul Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cagri","family":"Gulec","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Istanbul Faculty of Medicine Istanbul University Istanbul Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mehmet Cihan","family":"Balc\u0131","sequence":"additional","affiliation":[{"name":"Divisions of Pediatric Nutrition and Metabolism, Department of Pediatrics, Istanbul Faculty of Medicine Istanbul University Istanbul Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guven","family":"Toksoy","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Istanbul Faculty of Medicine Istanbul University Istanbul Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gulden","family":"Gokcay","sequence":"additional","affiliation":[{"name":"Divisions of Pediatric Nutrition and Metabolism, Department of Pediatrics, Istanbul Faculty of Medicine Istanbul University Istanbul Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Seher","family":"Basaran","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Istanbul Faculty of Medicine Istanbul University Istanbul Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mubeccel","family":"Demirkol","sequence":"additional","affiliation":[{"name":"Divisions of Pediatric Nutrition and Metabolism, Department of Pediatrics, Istanbul Faculty of Medicine Istanbul University Istanbul Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2035-4338","authenticated-orcid":false,"given":"Zehra Oya","family":"Uyguner","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Istanbul Faculty of Medicine Istanbul University Istanbul Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,8,11]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.5152\/TurkPediatriArs.2016.3759"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2012.03.007"},{"volume-title":"GeneReviews\u00ae [Internet]","year":"2021","author":"Berry G. 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