Systemic pathology: Krabbe disease: practice question

A Pathology 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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Pathology · Systemic pathology: Krabbe disease

Sample item

A 4-month-old infant is irritable and hypertonic with peripheral neuropathy and optic atrophy. Brain white matter shows loss of myelin and multinucleated globoid cells. Which enzyme is deficient?

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

The answer and the reasoning

D. Galactocerebrosidase

Krabbe disease is globoid cell leukodystrophy due to galactocerebrosidase deficiency, leading to accumulation of galactosylsphingosine (psychosine) that is toxic to oligodendrocytes. It presents in early infancy. Globoid cells are macrophages filled with undegraded galactocerebroside.

Option by option

  • A. Hexosaminidase A

    Hexosaminidase A deficiency causes Tay-Sachs disease with a cherry-red macula.

  • B. Arylsulfatase A

    Arylsulfatase A deficiency causes metachromatic leukodystrophy with sulfatide accumulation.

  • C. Glucocerebrosidase

    Glucocerebrosidase deficiency causes Gaucher disease with crumpled tissue paper macrophages.

  • D. Galactocerebrosidase (correct)

    Correct. Galactocerebrosidase deficiency causes globoid cell leukodystrophy.

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 Pathology question

What is the answer to this Pathology question?

The best answer is D, Galactocerebrosidase. Krabbe disease is globoid cell leukodystrophy due to galactocerebrosidase deficiency, leading to accumulation of galactosylsphingosine (psychosine) that is toxic to oligodendrocytes.

Why is "Hexosaminidase A" not the answer?

Hexosaminidase A deficiency causes Tay-Sachs disease with a cherry-red macula.

Why is "Arylsulfatase A" not the answer?

Arylsulfatase A deficiency causes metachromatic leukodystrophy with sulfatide accumulation.

Why is "Glucocerebrosidase" not the answer?

Glucocerebrosidase deficiency causes Gaucher disease with crumpled tissue paper macrophages.

What concept does this question test?

It tests Systemic pathology: Krabbe disease in Pathology. It presents in early infancy. Globoid cells are macrophages filled with undegraded galactocerebroside.

How hard is this question?

We tag it as a multi-step question: it asks you to combine more than one idea. 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 Systemic pathology: Krabbe disease?

Learn each disease as a bundle: cause, key histology, markers, and the clinical hallmark. Then use the flashcards and the other Pathology 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.