{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,4]],"date-time":"2026-03-04T12:11:28Z","timestamp":1772626288352,"version":"3.50.1"},"reference-count":25,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2019,4,4]],"date-time":"2019-04-04T00:00:00Z","timestamp":1554336000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Medicina"],"abstract":"<jats:p>Classic galactosemia is an autosomal recessive disorder caused by the deficiency of the enzyme galactose-1-phosphate uridyltransferase (GALT) involved in galactose metabolism. Bacterial infections are a known cause of early morbidity and mortality in children with classic galactosemia. The most common agent is Escherichia coli, but in rare situations, other bacteria are incriminated. We report a case of a three-week-old female patient with galactosemia, who presented with Group B Streptococcus (GBS) meningitis\/sepsis. She received treatment with antibiotics, supportive therapy, and erythrocyte transfusion, but after a short period of improvement, she presented acute liver failure with suspicion of an inborn error of metabolism. Rapid nuclear magnetic resonance (NMR) spectroscopy from urine showed highly elevated values of galactose and galactitol. Under intensive treatment for acute liver failure and with a lactose-free diet, her clinical features and laboratory parameters improved considerably. Genetic testing confirmed compound heterozygous status for GALT mutations: c.563 A&gt;G [p.Q188R] and c. 910 C&gt;T, the last mutation being a novel mutation in GALT gene. In countries without an extensive newborn screening program, a high index of suspicion is necessary for early diagnosis and treatment of galactosemia.<\/jats:p>","DOI":"10.3390\/medicina55040091","type":"journal-article","created":{"date-parts":[[2019,4,4]],"date-time":"2019-04-04T11:31:57Z","timestamp":1554377517000},"page":"91","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Novel Mutation in GALT Gene in Galactosemia Patient with Group B Streptococcus Meningitis and Acute Liver Failure"],"prefix":"10.3390","volume":"55","author":[{"given":"Alina","family":"Grama","sequence":"first","affiliation":[{"name":"Second Pediatric Clinic, Department of Mother and Child, University of Medicine and Pharmacy \u201cIuliu Ha\u021bieganu\u201d, 400012 Cluj-Napoca, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ligia","family":"Blaga","sequence":"additional","affiliation":[{"name":"Discipline of Neonatology, Department of Mother and Child, University of Medicine and Pharmacy \u201cIuliu Ha\u021bieganu\u201d, 400012 Cluj-Napoca, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7022-8893","authenticated-orcid":false,"given":"Alina","family":"Nicolescu","sequence":"additional","affiliation":[{"name":"NMR Laboratory, \u201cPetru Poni\u201d Institute of Macromolecular Chemistry, Romanian Academy of Sciences, 700487 Ia\u015fi, Romania"},{"name":"\u201cCostin D. Neni\u0163escu\u201d Institute of Organic Chemistry, Romanian Academy of Sciences, 060023 Bucharest, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8206-5227","authenticated-orcid":false,"given":"C\u0103lin","family":"Deleanu","sequence":"additional","affiliation":[{"name":"NMR Laboratory, \u201cPetru Poni\u201d Institute of Macromolecular Chemistry, Romanian Academy of Sciences, 700487 Ia\u015fi, Romania"},{"name":"\u201cCostin D. Neni\u0163escu\u201d Institute of Organic Chemistry, Romanian Academy of Sciences, 060023 Bucharest, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mariela","family":"Militaru","sequence":"additional","affiliation":[{"name":"Medical Genetics, Department of Molecular Sciences, University of Medicine and Pharmacy \u201cIuliu Ha\u021bieganu\u201d, 400012 Cluj-Napoca, Romania"},{"name":"Genetic Center Cluj-Napoca, 400363 Cluj-Napoca, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Simona","family":"C\u0103inap","sequence":"additional","affiliation":[{"name":"Second Pediatric Clinic, Department of Mother and Child, University of Medicine and Pharmacy \u201cIuliu Ha\u021bieganu\u201d, 400012 Cluj-Napoca, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Irina","family":"Pop","sequence":"additional","affiliation":[{"name":"Second Pediatric Clinic, Department of Mother and Child, University of Medicine and Pharmacy \u201cIuliu Ha\u021bieganu\u201d, 400012 Cluj-Napoca, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Georgia","family":"Tita","sequence":"additional","affiliation":[{"name":"Second Pediatric Clinic, Department of Mother and Child, University of Medicine and Pharmacy \u201cIuliu Ha\u021bieganu\u201d, 400012 Cluj-Napoca, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claudia","family":"S\u00eerbe","sequence":"additional","affiliation":[{"name":"Second Pediatric Clinic, Department of Mother and Child, University of Medicine and Pharmacy \u201cIuliu Ha\u021bieganu\u201d, 400012 Cluj-Napoca, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Otilia","family":"Fufezan","sequence":"additional","affiliation":[{"name":"Radiology Department, Children\u2019s Emergency Clinical Hospital, 400378 Cluj-Napoca, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3467-3302","authenticated-orcid":false,"given":"Mihaela","family":"Vin\u021ban","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Clinic, Children\u2019s Emergency Clinical Hospital, Department of Neurosciences, University of Medicine and Pharmacy \u201cIuliu Ha\u021bieganu\u201d, 400012 Cluj-Napoca, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2476-9706","authenticated-orcid":false,"given":"Romana","family":"Vulturar","sequence":"additional","affiliation":[{"name":"Department of Molecular Sciences, University of Medicine and Pharmacy \u201cIuliu Ha\u021bieganu\u201d, 400012 Cluj-Napoca, Romania"},{"name":"Cognitive Neuroscience Laboratory, Department of Psychology, Babe\u015f-Bolyai University, 400084 Cluj-Napoca, Romania"},{"name":"Imogen Medical Institute, 400012 Cluj-Napoca, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4931-1219","authenticated-orcid":false,"given":"Tudor","family":"Pop","sequence":"additional","affiliation":[{"name":"Second Pediatric Clinic, Department of Mother and Child, University of Medicine and Pharmacy \u201cIuliu Ha\u021bieganu\u201d, 400012 Cluj-Napoca, Romania"},{"name":"Center of Expertise for Pediatric Liver Rare Disorders, Children\u2019s Emergency Clinical Hospital, 400177 Cluj-Napoca, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2019,4,4]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"Saudubray, J.M., Van den Berghe, G., and Walter, J.H. 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