A 5-week-old girl, who appeared to be healthy at birth, develops diarrhea and vomiting a few days after birth. Your current examination reveals that she has hepatomegaly, jaundice, and early cataract formation and is not meeting developmental milestones. You suspect that she has which of the following conditions?

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Quizplus · Accepted Answer

The symptoms of diarrhea, vomiting, hepatomegaly, jaundice, early cataract formation, and developmental delays in a newborn suggest galactosemia, a metabolic disorder caused by the inability to properly metabolize galactose.  Galactosemia is an autosomal recessive disorder due (in this more common and more severe form of the disease) to a lack of galactose-1-phosphate uridyl transferase. This results in the formation and accumulation of galactose metabolites. If the infant's diet is not modified to exclude milk products, this will result in damage to the liver (fatty change, cholestasis, cirrhosis, liver failure), eyes (cataract formation), and brain (mental retardation).

A 5-Week-Old Girl, Who Appeared to Be Healthy at Birth