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Open AccessCase Report

Novel Mutation in GALT Gene in Galactosemia Patient with Group B Streptococcus Meningitis and Acute Liver Failure

1
Second Pediatric Clinic, Department of Mother and Child, University of Medicine and Pharmacy “Iuliu Hațieganu”, 400012 Cluj-Napoca, Romania
2
Discipline of Neonatology, Department of Mother and Child, University of Medicine and Pharmacy “Iuliu Hațieganu”, 400012 Cluj-Napoca, Romania
3
NMR Laboratory, “Petru Poni” Institute of Macromolecular Chemistry, Romanian Academy of Sciences, 700487 Iaşi, Romania
4
“Costin D. Neniţescu” Institute of Organic Chemistry, Romanian Academy of Sciences, 060023 Bucharest, Romania
5
Medical Genetics, Department of Molecular Sciences, University of Medicine and Pharmacy “Iuliu Hațieganu”, 400012 Cluj-Napoca, Romania
6
Genetic Center Cluj-Napoca, 400363 Cluj-Napoca, Romania
7
Radiology Department, Children’s Emergency Clinical Hospital, 400378 Cluj-Napoca, Romania
8
Pediatric Neurology Clinic, Children’s Emergency Clinical Hospital, Department of Neurosciences, University of Medicine and Pharmacy “Iuliu Hațieganu”, 400012 Cluj-Napoca, Romania
9
Department of Molecular Sciences, University of Medicine and Pharmacy “Iuliu Hațieganu”, 400012 Cluj-Napoca, Romania
10
Cognitive Neuroscience Laboratory, Department of Psychology, Babeş-Bolyai University, 400084 Cluj-Napoca, Romania
11
Center of Expertise for Pediatric Liver Rare Disorders, Children’s Emergency Clinical Hospital, 400177 Cluj-Napoca, Romania
12
Imogen Medical Institute, 400012 Cluj-Napoca, Romania
*
Authors to whom correspondence should be addressed.
This case was presented as a poster presentation at The 8th Europaediatrics Congress jointly held with The 13th National Congress of Romanian Pediatrics Society, 7–10 June 2017, Palace of Parliament, Romania. It was also published as an abstract: Galactosemia presented as a fulminant liver failure and group B streptococcus (GBS) sepsis in Archives of Disease in Childhood 2017; 102: A81. Under the Licence to BMJ Publishing Group Ltd. (“BMJ”) for publication of conference abstracts, the author has the right to use the Abstract or any part of it in, or as the basis of, any full length article(s). The copyright to any such article(s) shall vest outside of the Licence and not with the Publisher, unless otherwise agreed in writing.
Medicina 2019, 55(4), 91; https://doi.org/10.3390/medicina55040091
Received: 26 January 2019 / Revised: 14 March 2019 / Accepted: 1 April 2019 / Published: 4 April 2019
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PDF [271 KB, uploaded 13 May 2019]

Abstract

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>G [p.Q188R] and c. 910 C>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. View Full-Text
Keywords: galactosemia; group B streptococcus meningitis; acute liver failure; nuclear magnetic resonance (NMR) spectroscopy; GALT mutations galactosemia; group B streptococcus meningitis; acute liver failure; nuclear magnetic resonance (NMR) spectroscopy; GALT mutations
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited (CC BY 4.0).
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Grama, A.; Blaga, L.; Nicolescu, A.; Deleanu, C.; Militaru, M.; Căinap, S.S.; Pop, I.; Tita, G.; Sîrbe, C.; Fufezan, O.; Vințan, M.A.; Vulturar, R.; Pop, T.L. Novel Mutation in GALT Gene in Galactosemia Patient with Group B Streptococcus Meningitis and Acute Liver Failure. Medicina 2019, 55, 91.

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