Novel Mutation in GALT Gene in Galactosemia Patient with Group B Streptococcus Meningitis and Acute Liver Failure†
Second Pediatric Clinic, Department of Mother and Child, University of Medicine and Pharmacy “Iuliu Hațieganu”, 400012 Cluj-Napoca, Romania
Discipline of Neonatology, Department of Mother and Child, University of Medicine and Pharmacy “Iuliu Hațieganu”, 400012 Cluj-Napoca, Romania
NMR Laboratory, “Petru Poni” Institute of Macromolecular Chemistry, Romanian Academy of Sciences, 700487 Iaşi, Romania
“Costin D. Neniţescu” Institute of Organic Chemistry, Romanian Academy of Sciences, 060023 Bucharest, Romania
Medical Genetics, Department of Molecular Sciences, University of Medicine and Pharmacy “Iuliu Hațieganu”, 400012 Cluj-Napoca, Romania
Genetic Center Cluj-Napoca, 400363 Cluj-Napoca, Romania
Radiology Department, Children’s Emergency Clinical Hospital, 400378 Cluj-Napoca, Romania
Pediatric Neurology Clinic, Children’s Emergency Clinical Hospital, Department of Neurosciences, University of Medicine and Pharmacy “Iuliu Hațieganu”, 400012 Cluj-Napoca, Romania
Department of Molecular Sciences, University of Medicine and Pharmacy “Iuliu Hațieganu”, 400012 Cluj-Napoca, Romania
Cognitive Neuroscience Laboratory, Department of Psychology, Babeş-Bolyai University, 400084 Cluj-Napoca, Romania
Center of Expertise for Pediatric Liver Rare Disorders, Children’s Emergency Clinical Hospital, 400177 Cluj-Napoca, Romania
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.
Received: 26 January 2019 / Revised: 14 March 2019 / Accepted: 1 April 2019 / Published: 4 April 2019
PDF [271 KB, uploaded 13 May 2019]
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.
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).
Share & Cite This Article
MDPI and ACS Style
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.
Grama A, Blaga L, Nicolescu A, Deleanu C, Militaru M, Căinap SS, Pop I, Tita G, Sîrbe C, Fufezan O, Vințan MA, Vulturar R, Pop TL. Novel Mutation in GALT Gene in Galactosemia Patient with Group B Streptococcus Meningitis and Acute Liver Failure. Medicina. 2019; 55(4):91.
Grama, Alina; Blaga, Ligia; Nicolescu, Alina; Deleanu, Călin; Militaru, Mariela; Căinap, Simona S.; Pop, Irina; Tita, Georgia; Sîrbe, Claudia; Fufezan, Otilia; Vințan, Mihaela A.; Vulturar, Romana; Pop, Tudor L. 2019. "Novel Mutation in GALT Gene in Galactosemia Patient with Group B Streptococcus Meningitis and Acute Liver Failure." Medicina 55, no. 4: 91.
Show more citation formats
Show less citations formats
Note that from the first issue of 2016, MDPI journals use article numbers instead of page numbers. See further details here.
[Return to top]
For more information on the journal statistics, click here
Multiple requests from the same IP address are counted as one view.