The enzyme deficient in Galactosemia is:-
So, the main enzymes involved in galactose metabolism. There are a few steps. Galactose is converted to glucose via several enzymes. The first step is galactokinase, then UDP-galactose 4-epimerase, and the most common deficiency is in galactose-1-phosphate uridyltransferase. Classic Galactosemia is usually due to the deficiency of the third enzyme.
The correct answer here should be Galactose-1-phosphate uridyltransferase. Let me make sure. The options are A to D, but the user didn't list them. Hmm. But the correct answer is option C, as per the user's correct answer line. Wait, the user provided the correct answer as ". " without the letter. Maybe that's a formatting issue. Let me think. Common options for this question would be the three enzymes mentioned. Let's say options are A: Galactokinase, B: UDP-galactose 4-epimerase, C: Galactose-1-phosphate uridyltransferase, D: Lactase. So the correct answer is C.
Now, why each wrong option is incorrect. Galactokinase deficiency causes a different form of Galactosemia, less severe. UDP-galactose 4-epimerase deficiency is rare. Lactase isn't involved in galactose metabolism.
Clinical pearl: Classic Galactosemia is due to GALT deficiency. Early diagnosis with newborn screening is crucial to prevent complications like liver failure or intellectual disability.
Putting it all together, the explanation should cover the core concept, the correct enzyme, why the others are wrong, and a high-yield fact. Need to structure each section as per the user's instructions, using bold for sections and precise terminology. Also, keep it concise but thorough, within the character limit. Let me check the character count. The example given is around 2000 characters. I'll aim for that. Make sure to avoid markdown except for bold and line breaks. Also, use proper medical terms and ensure clarity for postgraduate students.
**Core Concept**
Galactosemia is an autosomal recessive disorder caused by the deficiency of enzymes involved in galactose metabolism. The most common and clinically severe form results from a deficiency of **galactose-1-phosphate uridyltransferase (GALT)**, which catalyzes the conversion of galactose-1-phosphate to glucose-1-phosphate.
**Why the Correct Answer is Right**
**Galactose-1-phosphate uridyltransferase (GALT)** deficiency is the enzyme defect in classic galactosemia. This leads to the accumulation of galactose-1-phosphate, causing toxicity in the liver, brain, and other tissues. Untreated, it results in jaundice, hepatomegaly, cataracts (due to galactitol accumulation in the lens), and severe systemic complications in infancy. Early diagnosis via newborn screening and dietary gal