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

Published in:	Medicina
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
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