Metabolic: galactosaemia: practice question

A Pediatrics 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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Pediatrics · Metabolic: galactosaemia

Sample item

A neonate develops vomiting, jaundice, hepatomegaly and E. coli sepsis after starting breast milk. Urine reducing substances are positive and glucose oxidase test is negative. What is the diagnosis?

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

The answer and the reasoning

A. Classical galactosaemia

Galactose-1-phosphate uridyltransferase deficiency leads to accumulation of galactose-1-phosphate, which injures the liver, lens and kidney. The baby develops cataracts and is susceptible to E. coli sepsis. Treatment is complete elimination of lactose and galactose, with soy or elemental formula.

Option by option

  • A. Classical galactosaemia (correct)

    Correct. This is galactosaemia.

  • B. Glycogen storage disease I

    GSD I presents with hypoglycaemia and hepatomegaly.

  • C. Hereditary fructose intolerance

    Fructose intolerance appears after fruit or sucrose introduction.

  • D. Phenylketonuria

    PKU does not cause neonatal liver failure.

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 Pediatrics question

What is the answer to this Pediatrics question?

The best answer is A, Classical galactosaemia. Galactose-1-phosphate uridyltransferase deficiency leads to accumulation of galactose-1-phosphate, which injures the liver, lens and kidney.

Why is "Glycogen storage disease I" not the answer?

GSD I presents with hypoglycaemia and hepatomegaly.

Why is "Hereditary fructose intolerance" not the answer?

Fructose intolerance appears after fruit or sucrose introduction.

Why is "Phenylketonuria" not the answer?

PKU does not cause neonatal liver failure.

What concept does this question test?

It tests Metabolic: galactosaemia in Pediatrics. The baby develops cataracts and is susceptible to E. coli sepsis. Treatment is complete elimination of lactose and galactose, with soy or elemental formula.

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 Metabolic: galactosaemia?

Memorise milestones and the vaccine schedule as tables and revise them often. Then use the flashcards and the other Pediatrics 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.