Cell injury and adaptation: peroxisomal disorder: 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 · Cell injury and adaptation: peroxisomal disorder

Sample item

A neonate has profound hypotonia, a high forehead with flat facial profile, hepatomegaly, seizures and jaundice. Liver biopsy shows an absence of peroxisomes. Which substances accumulate in the tissues?

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

The answer and the reasoning

A. Very-long-chain fatty acids

Zellweger spectrum disorders arise from defective peroxisome biogenesis, so very-long-chain fatty acids cannot undergo peroxisomal beta-oxidation and accumulate in plasma and tissues. Plasmalogen synthesis is also impaired. Death usually occurs in infancy.

Option by option

  • A. Very-long-chain fatty acids (correct)

    Correct. Without peroxisomes, very-long-chain fatty acids cannot be oxidised and accumulate.

  • B. Branched-chain keto acids

    Branched-chain keto acids accumulate in maple syrup urine disease, with sweet-smelling urine.

  • C. Medium-chain fatty acids

    Medium-chain fatty acids are oxidised in mitochondria, where the defect lies in MCAD deficiency.

  • D. Glucocerebroside

    Glucocerebroside is stored in lysosomes in Gaucher 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 Pathology question

What is the answer to this Pathology question?

The best answer is A, Very-long-chain fatty acids. Zellweger spectrum disorders arise from defective peroxisome biogenesis, so very-long-chain fatty acids cannot undergo peroxisomal beta-oxidation and accumulate in plasma and tissues.

Why is "Branched-chain keto acids" not the answer?

Branched-chain keto acids accumulate in maple syrup urine disease, with sweet-smelling urine.

Why is "Medium-chain fatty acids" not the answer?

Medium-chain fatty acids are oxidised in mitochondria, where the defect lies in MCAD deficiency.

Why is "Glucocerebroside" not the answer?

Glucocerebroside is stored in lysosomes in Gaucher disease.

What concept does this question test?

It tests Cell injury and adaptation: peroxisomal disorder in Pathology. Plasmalogen synthesis is also impaired. Death usually occurs in infancy.

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 Cell injury and adaptation: peroxisomal disorder?

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.