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Case Reports
. 2019 Apr 4;55(4):91.
doi: 10.3390/medicina55040091.

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

Alina Grama  1 , Ligia Blaga  2 , Alina Nicolescu  3   4 , Călin Deleanu  5   6 , Mariela Militaru  7   8 , Simona Sorana Căinap  9 , Irina Pop  10 , Georgia Tita  11 , Claudia Sîrbe  12 , Otilia Fufezan  13 , Mihaela Adela Vințan  14 , Romana Vulturar  15   16   17 , Tudor Lucian Pop  18   19
Affiliations
Case Reports

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

Alina Grama et al. Medicina (Kaunas). .

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.

Keywords: GALT mutations; acute liver failure; galactosemia; group B streptococcus meningitis; nuclear magnetic resonance (NMR) spectroscopy.

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Conflict of interest statement

The authors declare no conflict of interest.

References

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