Carbohydrate metabolism: galactose: practice question

A Biochemistry question in the style of the NEET PG paper. Answer it first, then read why the right option is right and why each of the others is wrong.

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Biochemistry · Carbohydrate metabolism: galactose

Sample item

An infant has jaundice, hepatomegaly, cataracts, and poor feeding after milk feeds. Which enzyme deficiency is most likely?

Original practice item, not a recalled exam question. Nothing here is recorded.

The answer and the reasoning

A. Galactose-1-phosphate uridyltransferase deficiency

Classic galactosemia results from galactose-1-phosphate uridyltransferase deficiency and causes liver disease, cataracts, and risk of E. coli sepsis. Lactose and galactose must be restricted.

Option by option

  • A. Galactose-1-phosphate uridyltransferase deficiency (correct)

    Correct. GALT deficiency is the classic cause of severe galactosemia.

  • B. Pyruvate dehydrogenase deficiency

    Pyruvate dehydrogenase deficiency causes lactic acidosis and neurologic dysfunction.

  • C. Aldolase B deficiency

    Aldolase B deficiency causes hereditary fructose intolerance.

  • D. Glucose-6-phosphatase deficiency

    Glucose-6-phosphatase deficiency causes von Gierke disease.

Source note: Original NextPrep sample item — pending expert review. This item is original practice material awaiting independent expert review, so confirm important facts in a standard textbook.

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Questions about this Biochemistry question

What is the answer to this Biochemistry question?

The best answer is A, Galactose-1-phosphate uridyltransferase deficiency. Classic galactosemia results from galactose-1-phosphate uridyltransferase deficiency and causes liver disease, cataracts, and risk of E.

Why is "Pyruvate dehydrogenase deficiency" not the answer?

Pyruvate dehydrogenase deficiency causes lactic acidosis and neurologic dysfunction.

Why is "Aldolase B deficiency" not the answer?

Aldolase B deficiency causes hereditary fructose intolerance.

Why is "Glucose-6-phosphatase deficiency" not the answer?

Glucose-6-phosphatase deficiency causes von Gierke disease.

What concept does this question test?

It tests Carbohydrate metabolism: galactose in Biochemistry. coli sepsis. Lactose and galactose must be restricted.

How hard is this question?

We tag it as an application question: it asks you to use a fact on a patient or a finding. The tag is our own editorial judgement, not an official difficulty rating, so read the reason for every option, not only the answer.

How should I study Carbohydrate metabolism: galactose?

Build one table of enzyme deficiency, disease, inheritance and key finding, then revise it by spaced recall. Then use the flashcards and the other Biochemistry questions on this site to test what stuck.

Is this a real NEET PG question?

No. It is an original practice item (editorial status: sample, version 1). NextPrep does not publish recalled or leaked questions, and independent faculty review of this item has not been completed yet, so confirm important facts in a standard textbook.