{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,13]],"date-time":"2025-11-13T18:42:07Z","timestamp":1763059327918,"version":"3.41.2"},"reference-count":39,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2025,2,18]],"date-time":"2025-02-18T00:00:00Z","timestamp":1739836800000},"content-version":"vor","delay-in-days":17,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Case Reports"],"published-print":{"date-parts":[[2025,2]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>Galactosemia is a rare autosomal recessive metabolic disorder with four main types, and classic galactosemia is the most prevalent. These patients have galactose\u20101\u2010phosphate\u2010uridyltransferase deficiency. We report on a case of an infant who was admitted with poor feeding, lethargy, and poor weight gain. Based on the clinical symptoms and laboratory findings, the patient was considered to have a metabolic disorder. The patient had unusual presentations such as macrocytic anemia requiring blood transfusions, repeatedly metabolic acidosis requiring bicarbonate therapy and failure to thrive in addition to neurodevelopmental delay which led the authors to different diagnoses and suspect to mitochondrial disorders. Finally, in one of the assessments before blood transfusion, a high galactose\u20101 phosphate was detected, and galactose\u2010free diet was started which led to neurologic and physical of the child. The whole\u2010exome sequencing (WES) also revealed a likely pathogenic homozygous mutation in <jats:italic>GALT<\/jats:italic> (c.794 C&gt;G, p. Pro265Arg) confirming the diagnosis of classic galactosemia. In Iran, global neonatal metabolic screening is not done for galactosemia which results in late diagnosis of the affected patients. So, we suggest adding galactosemia to neonatal metabolic screening in Iran.<\/jats:p>","DOI":"10.1002\/ccr3.70170","type":"journal-article","created":{"date-parts":[[2025,2,19]],"date-time":"2025-02-19T06:19:11Z","timestamp":1739945951000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Unusual Presentation of Classical Galactosemia: A Case Report of Iranian Experience"],"prefix":"10.1002","volume":"13","author":[{"given":"Mohammadreza","family":"Alaee","sequence":"first","affiliation":[{"name":"Department of Pediatric Endocrinology and Metabolic Diseases, Mofid Children Hospital Shahid Beheshti University of Medical Sciences  Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7926-0598","authenticated-orcid":false,"given":"Hedyeh","family":"Saneifard","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology and Metabolic Diseases, Mofid Children Hospital Shahid Beheshti University of Medical Sciences  Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marjan","family":"Shakiba","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology and Metabolic Diseases, Mofid Children Hospital Shahid Beheshti University of Medical Sciences  Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marjan","family":"Hanifeh","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology and Metabolic Diseases, Mofid Children Hospital Shahid Beheshti University of Medical Sciences  Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5363-7927","authenticated-orcid":false,"given":"Shirin","family":"Moarefian","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology and Metabolic Diseases, Mofid Children Hospital Shahid Beheshti University of Medical Sciences  Tehran Iran"},{"name":"Department of Neurogenetics, Iranian Center of Neurological Research (ICNR) Tehran University of Medical Sciences  Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,2,18]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.21037\/atm.2018.11.05"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clp.2015.02.010"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2008.07.001"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140\u20106736(01)41972\u20106"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651\u20102227.2006.tb02172.x"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pcl.2017.11.002"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2015.06.077"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545\u2010014\u20109780\u2010x"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/8904_2013_219"},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbagen.2021.129898"},{"key":"e_1_2_12_12_1","first-page":"799","article-title":"Zuckerausscheidung im S\u00e4uglingsalter","volume":"58","author":"Von Reuss A.","year":"1908","journal-title":"Wiener Medizinische Wochenschrift (1946)"},{"key":"e_1_2_12_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545\u2010017\u20100029\u20103"},{"key":"e_1_2_12_14_1","doi-asserted-by":"publisher","DOI":"10.7754\/Clin.Lab.2013.121235"},{"issue":"6","key":"e_1_2_12_15_1","first-page":"262","article-title":"Galactosemia: Clinical Features, Diagnosis and Management. 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M.Houshmand The Genetic Basis of Galactosemia in Iranian Patients: Identification of Twenty Novel Mutations in GALT GALK1 and GALE GenePublished online June 26 2023 https:\/\/doi.org\/10.21203\/rs.3.rs\u20103093450\/v1.","DOI":"10.21203\/rs.3.rs-3093450\/v1"},{"key":"e_1_2_12_33_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12887\u2010024\u201004769\u20100"},{"issue":"4","key":"e_1_2_12_34_1","first-page":"99","article-title":"The Prevalence and Clinical Study of Galactosemia Disease in a Pilot Screening Program of Neonates, Southern Iran","volume":"40","author":"Senemar S.","year":"2011","journal-title":"Iranian Journal of Public Health"},{"issue":"1","key":"e_1_2_12_35_1","first-page":"39","article-title":"The Incidence and Clinical Study of Galactosemia in Fars Province in South of Iran (Short Communication)","volume":"3","author":"Alieh M.","year":"2014","journal-title":"Galen Medical Journal"},{"key":"e_1_2_12_36_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgmr.2024.101103"},{"key":"e_1_2_12_37_1","doi-asserted-by":"publisher","DOI":"10.1093\/braincomms\/fcaa006"},{"key":"e_1_2_12_38_1","doi-asserted-by":"publisher","DOI":"10.3390\/jpm11020075"},{"key":"e_1_2_12_39_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00198\u2010012\u20101983\u20100"},{"key":"e_1_2_12_40_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545\u2010018\u20100177\u20100"}],"container-title":["Clinical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ccr3.70170","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,3,12]],"date-time":"2025-03-12T08:26:12Z","timestamp":1741767972000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ccr3.70170"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,2]]},"references-count":39,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2025,2]]}},"alternative-id":["10.1002\/ccr3.70170"],"URL":"https:\/\/doi.org\/10.1002\/ccr3.70170","archive":["Portico"],"relation":{},"ISSN":["2050-0904","2050-0904"],"issn-type":[{"type":"print","value":"2050-0904"},{"type":"electronic","value":"2050-0904"}],"subject":[],"published":{"date-parts":[[2025,2]]},"assertion":[{"value":"2024-07-05","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-01-23","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-02-18","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e70170"}}