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Study for the USMLE Step 2, daily.
A 5-week-old girl, who appeared to be healthy at birth, develops diarrhea and vomiting a few days later. Your current examination reveals that she has hepatomegaly, jaundice, and early cataract formation. She is not meeting developmental milestones. What is the most likely diagnosis?
Correct Answer:
Explanation:
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).
Quick Concepts:
Galactosemia
- Autosomal recessive
- Lack of galactose-1-phosphate uridyl transferase
- Damage to liver, eyes, and brain
Summary:
Galactosemia is an autosomal recessive disease that can cause damage to the infant’s liver, eyes, and brain. Diet modification is needed in these patients. Patient should NOT consume any lactose or galactose.
Explanation:
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