Classic galactosemia - Maastricht University Research Portal.
Novel Mutation in GALT Gene in Galactosemia Patient with Group B Streptococcus Meningitis and Acute Liver Failure. View Full-Text Download PDF Cite This Paper. 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.
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Classic galactosemia is a potentially lethal disorder that results from profound impairment of galactose-1-phosphate uridylyltransferase (GALT). Despite decades of research, the underlying pathophysiology of classic galactosemia remains unclear, in part owing to the lack of an appropriate animal model. Here, we report the establishment of a Drosophila melanogaster model of classic galactosemia.
This paper, describing an African-American infant with a variant form of galactosemia, served to reveal marked hyper-galactosemia as an integral component of GALT deficiency. However, establishment of the abnormal biochemistry awaited the discovery of Schwarz in 1956 (Schwarz et al. 1956) that the substrate, galactose-1-phosphate, was elevated.
The purpose of this paper, in addition to adding three more cases (all in one family), is to illustrate and emphasize that icterus may be a primary and not a secondary feature of the disease and to reemphasize the importance of early diagnosis, since. Full Text. Download PDF Full Text. Cite This. Citation. JOHNS D. GALACTOSEMIA: An Unusual Cause of Neonatal Jaundice. AMA Am J Dis Child. 1953.
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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.