Novel Mutation in GALT Gene in Galactosemia Patient with Group B Streptococcus Meningitis and Acute Liver Failure
Alina Grama,
Ligia Blaga,
Alina Nicolescu,
Călin Deleanu,
Mariela Militaru,
Simona Sorana Căinap,
Irina Pop,
Georgia Tita,
Claudia Sîrbe,
Otilia Fufezan,
Mihaela Adela Vințan,
Romana Vulturar,
Tudor Lucian Pop
Affiliations
Alina Grama
Second Pediatric Clinic, Department of Mother and Child, University of Medicine and Pharmacy “Iuliu Hațieganu”, 400012 Cluj-Napoca, Romania
Ligia Blaga
Discipline of Neonatology, Department of Mother and Child, University of Medicine and Pharmacy “Iuliu Hațieganu”, 400012 Cluj-Napoca, Romania
Alina Nicolescu
NMR Laboratory, “Petru Poni” Institute of Macromolecular Chemistry, Romanian Academy of Sciences, 700487 Iaşi, Romania
Călin Deleanu
NMR Laboratory, “Petru Poni” Institute of Macromolecular Chemistry, Romanian Academy of Sciences, 700487 Iaşi, Romania
Mariela Militaru
Medical Genetics, Department of Molecular Sciences, University of Medicine and Pharmacy “Iuliu Hațieganu”, 400012 Cluj-Napoca, Romania
Simona Sorana Căinap
Second Pediatric Clinic, Department of Mother and Child, University of Medicine and Pharmacy “Iuliu Hațieganu”, 400012 Cluj-Napoca, Romania
Irina Pop
Second Pediatric Clinic, Department of Mother and Child, University of Medicine and Pharmacy “Iuliu Hațieganu”, 400012 Cluj-Napoca, Romania
Georgia Tita
Second Pediatric Clinic, Department of Mother and Child, University of Medicine and Pharmacy “Iuliu Hațieganu”, 400012 Cluj-Napoca, Romania
Claudia Sîrbe
Second Pediatric Clinic, Department of Mother and Child, University of Medicine and Pharmacy “Iuliu Hațieganu”, 400012 Cluj-Napoca, Romania
Otilia Fufezan
Radiology Department, Children’s Emergency Clinical Hospital, 400378 Cluj-Napoca, Romania
Mihaela Adela Vințan
Pediatric Neurology Clinic, Children’s Emergency Clinical Hospital, Department of Neurosciences, University of Medicine and Pharmacy “Iuliu Hațieganu”, 400012 Cluj-Napoca, Romania
Romana Vulturar
Department of Molecular Sciences, University of Medicine and Pharmacy “Iuliu Hațieganu”, 400012 Cluj-Napoca, Romania
Tudor Lucian Pop
Second Pediatric Clinic, Department of Mother and Child, University of Medicine and Pharmacy “Iuliu Hațieganu”, 400012 Cluj-Napoca, Romania
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.
