Cataract: galactosaemia: practice question

A Ophthalmology 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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Ophthalmology · Cataract: galactosaemia

Sample item

A neonate with jaundice, hepatomegaly and vomiting on milk feeds develops oil droplet cataracts. Which enzyme deficiency is likely?

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

The answer and the reasoning

A. Galactose-1-phosphate uridyltransferase

Classic galactosaemia is due to GALT deficiency, with accumulation of galactitol in the lens through aldose reductase. Cataract may regress if galactose is eliminated early.

Option by option

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

    Correct. GALT deficiency causes classic galactosaemia.

  • B. Glucose-6-phosphatase

    Glucose-6-phosphatase deficiency is von Gierke disease.

  • C. Phenylalanine hydroxylase

    Phenylalanine hydroxylase deficiency is phenylketonuria.

  • D. Hexosaminidase A

    Hexosaminidase A deficiency is Tay-Sachs disease with a cherry red spot.

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 Ophthalmology question

What is the answer to this Ophthalmology question?

The best answer is A, Galactose-1-phosphate uridyltransferase. Classic galactosaemia is due to GALT deficiency, with accumulation of galactitol in the lens through aldose reductase.

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

Glucose-6-phosphatase deficiency is von Gierke disease.

Why is "Phenylalanine hydroxylase" not the answer?

Phenylalanine hydroxylase deficiency is phenylketonuria.

Why is "Hexosaminidase A" not the answer?

Hexosaminidase A deficiency is Tay-Sachs disease with a cherry red spot.

What concept does this question test?

It tests Cataract: galactosaemia in Ophthalmology. Cataract may regress if galactose is eliminated early.

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 Cataract: galactosaemia?

Group the red eye by what to examine and what the pupil does. Then use the flashcards and the other Ophthalmology 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.