Novel Mutation in GALT Gene in Galactosemia Patient with Group B Streptococcus Meningitis and Acute Liver Failure
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 comm...
| Main Authors: | , , , , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2019-04-01
|
| Series: | Medicina |
| Subjects: | |
| Online Access: | https://www.mdpi.com/1010-660X/55/4/91 |
| _version_ | 1797728008067350528 |
|---|---|
| author | 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 |
| author_facet | 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 |
| author_sort | Alina Grama |
| collection | DOAJ |
| description | 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 <i>Escherichia coli</i>, but in rare situations, other bacteria are incriminated. We report a case of a three-week-old female patient with galactosemia, who presented with <i>Group B Streptococcus</i> (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. |
| first_indexed | 2024-03-12T11:07:38Z |
| format | Article |
| id | doaj.art-95dea43bb5344e349b7d6b3c57d97f6f |
| institution | Directory Open Access Journal |
| issn | 1010-660X |
| language | English |
| last_indexed | 2024-03-12T11:07:38Z |
| publishDate | 2019-04-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Medicina |
| spelling | doaj.art-95dea43bb5344e349b7d6b3c57d97f6f2023-09-02T03:30:28ZengMDPI AGMedicina1010-660X2019-04-015549110.3390/medicina55040091medicina55040091Novel Mutation in GALT Gene in Galactosemia Patient with Group B Streptococcus Meningitis and Acute Liver FailureAlina Grama0Ligia Blaga1Alina Nicolescu2Călin Deleanu3Mariela Militaru4Simona Sorana Căinap5Irina Pop6Georgia Tita7Claudia Sîrbe8Otilia Fufezan9Mihaela Adela Vințan10Romana Vulturar11Tudor Lucian Pop12Second Pediatric Clinic, Department of Mother and Child, University of Medicine and Pharmacy “Iuliu Hațieganu”, 400012 Cluj-Napoca, RomaniaDiscipline of Neonatology, Department of Mother and Child, University of Medicine and Pharmacy “Iuliu Hațieganu”, 400012 Cluj-Napoca, RomaniaNMR Laboratory, “Petru Poni” Institute of Macromolecular Chemistry, Romanian Academy of Sciences, 700487 Iaşi, RomaniaNMR Laboratory, “Petru Poni” Institute of Macromolecular Chemistry, Romanian Academy of Sciences, 700487 Iaşi, RomaniaMedical Genetics, Department of Molecular Sciences, University of Medicine and Pharmacy “Iuliu Hațieganu”, 400012 Cluj-Napoca, RomaniaSecond Pediatric Clinic, Department of Mother and Child, University of Medicine and Pharmacy “Iuliu Hațieganu”, 400012 Cluj-Napoca, RomaniaSecond Pediatric Clinic, Department of Mother and Child, University of Medicine and Pharmacy “Iuliu Hațieganu”, 400012 Cluj-Napoca, RomaniaSecond Pediatric Clinic, Department of Mother and Child, University of Medicine and Pharmacy “Iuliu Hațieganu”, 400012 Cluj-Napoca, RomaniaSecond Pediatric Clinic, Department of Mother and Child, University of Medicine and Pharmacy “Iuliu Hațieganu”, 400012 Cluj-Napoca, RomaniaRadiology Department, Children’s Emergency Clinical Hospital, 400378 Cluj-Napoca, RomaniaPediatric Neurology Clinic, Children’s Emergency Clinical Hospital, Department of Neurosciences, University of Medicine and Pharmacy “Iuliu Hațieganu”, 400012 Cluj-Napoca, RomaniaDepartment of Molecular Sciences, University of Medicine and Pharmacy “Iuliu Hațieganu”, 400012 Cluj-Napoca, RomaniaSecond Pediatric Clinic, Department of Mother and Child, University of Medicine and Pharmacy “Iuliu Hațieganu”, 400012 Cluj-Napoca, RomaniaClassic 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 <i>Escherichia coli</i>, but in rare situations, other bacteria are incriminated. We report a case of a three-week-old female patient with galactosemia, who presented with <i>Group B Streptococcus</i> (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.https://www.mdpi.com/1010-660X/55/4/91galactosemiagroup B streptococcus meningitisacute liver failurenuclear magnetic resonance (NMR) spectroscopyGALT mutations |
| spellingShingle | 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 Novel Mutation in GALT Gene in Galactosemia Patient with Group B Streptococcus Meningitis and Acute Liver Failure Medicina galactosemia group B streptococcus meningitis acute liver failure nuclear magnetic resonance (NMR) spectroscopy GALT mutations |
| title | Novel Mutation in GALT Gene in Galactosemia Patient with Group B Streptococcus Meningitis and Acute Liver Failure |
| title_full | Novel Mutation in GALT Gene in Galactosemia Patient with Group B Streptococcus Meningitis and Acute Liver Failure |
| title_fullStr | Novel Mutation in GALT Gene in Galactosemia Patient with Group B Streptococcus Meningitis and Acute Liver Failure |
| title_full_unstemmed | Novel Mutation in GALT Gene in Galactosemia Patient with Group B Streptococcus Meningitis and Acute Liver Failure |
| title_short | Novel Mutation in GALT Gene in Galactosemia Patient with Group B Streptococcus Meningitis and Acute Liver Failure |
| title_sort | novel mutation in galt gene in galactosemia patient with group b streptococcus meningitis and acute liver failure |
| topic | galactosemia group B streptococcus meningitis acute liver failure nuclear magnetic resonance (NMR) spectroscopy GALT mutations |
| url | https://www.mdpi.com/1010-660X/55/4/91 |
| work_keys_str_mv | AT alinagrama novelmutationingaltgeneingalactosemiapatientwithgroupbstreptococcusmeningitisandacuteliverfailure AT ligiablaga novelmutationingaltgeneingalactosemiapatientwithgroupbstreptococcusmeningitisandacuteliverfailure AT alinanicolescu novelmutationingaltgeneingalactosemiapatientwithgroupbstreptococcusmeningitisandacuteliverfailure AT calindeleanu novelmutationingaltgeneingalactosemiapatientwithgroupbstreptococcusmeningitisandacuteliverfailure AT marielamilitaru novelmutationingaltgeneingalactosemiapatientwithgroupbstreptococcusmeningitisandacuteliverfailure AT simonasoranacainap novelmutationingaltgeneingalactosemiapatientwithgroupbstreptococcusmeningitisandacuteliverfailure AT irinapop novelmutationingaltgeneingalactosemiapatientwithgroupbstreptococcusmeningitisandacuteliverfailure AT georgiatita novelmutationingaltgeneingalactosemiapatientwithgroupbstreptococcusmeningitisandacuteliverfailure AT claudiasirbe novelmutationingaltgeneingalactosemiapatientwithgroupbstreptococcusmeningitisandacuteliverfailure AT otiliafufezan novelmutationingaltgeneingalactosemiapatientwithgroupbstreptococcusmeningitisandacuteliverfailure AT mihaelaadelavintan novelmutationingaltgeneingalactosemiapatientwithgroupbstreptococcusmeningitisandacuteliverfailure AT romanavulturar novelmutationingaltgeneingalactosemiapatientwithgroupbstreptococcusmeningitisandacuteliverfailure AT tudorlucianpop novelmutationingaltgeneingalactosemiapatientwithgroupbstreptococcusmeningitisandacuteliverfailure |