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

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...

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Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: MDPI AG 2019-04-01
Series:Medicina
Subjects:
galactosemia
group B streptococcus meningitis
acute liver failure
nuclear magnetic resonance (NMR) spectroscopy
GALT mutations
Online Access:https://www.mdpi.com/1010-660X/55/4/91

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https://www.mdpi.com/1010-660X/55/4/91

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