vi medicine informatics




A patient’s presentation of small size, jaundice, corneal clouding, hepatomegaly, and vomiting after milk feedings of any kind points to a diagnosis of classic galactosemia. Classic galactosemia is an autosomal recessive inherited disease caused by a deficiency of galactose-1-phosphate uridyltransferase. Without this enzyme, phosphorylated galactose cannot be converted to UDP-galactose, an intermediate in the eventual conversion of galactose to glucose. As a result, galactose-1-phosphate and galactitol accumulate in various organs in the body, including the central nervous system, liver, and eyes. Long-term consequences of continued feeding with milk include cataracts and intellectual disability.

tags: oneliner