Galactosemia: An Insight
Rajagopal Kishore Kumar, Piyush Shah
Abstract
Galactosemia is an inborn error of galactose metabolism caused by deficient enzyme galactose-1-phosphate uridylyltransferase (GALT). Affected infants usually die of gram-negative sepsis. Diagnosis in newborns is by monoanalyte chromatography on dried blood spot. Universal screening for galactosemia should be encouraged, but till then perinatologists need to think of at least “target screening” of infants with unexplained gram-negative sepsis and jaundice and infants who fail to thrive. Till date, dietary restriction of galactose is the only treatment available. Further research toward molecular diagnosis and drug modifiers is encouraged.
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