A 4-week-old girl, who appeared to be healthy at birth, develops diarrhea and vomiting a few days after. Your current examination reveals that she has hepatomegaly, jaundice, and early cataract formation and is not meeting developmental milestones. The most likely diagnosis is :
5.Type I glycogenosis
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).