A 28-year-old man develops fatigue, jaundice, and dark urine two days after taking an antibiotic. Lab tests show anemia, raised LDH, elevated indirect bilirubin, and negative Coombs test. G6PD deficiency is suspected. Which statements correctly describe features of the HMP shunt pathway?      A. Enzyme defect: Sphingomyelinase    B. Enzyme defect: Beta-glucocerebrosidase    C. Foamy macrophages are seen    D. Crumpled tissue paper appearance is seen

1. A

   A and B

2. B

   A and C

3. C

   B and D

4. D

   C and D

Appeared in: INI-CET EXAM -2025

Explanation

• This option correctly pairs the features of Gaucher disease.
• Statement B, 'Enzyme defect: Beta-glucocerebrosidase,' identifies the fundamental biochemical defect in Gaucher disease.
• Statement D, 'Crumpled tissue paper appearance is seen,' describes the classic microscopic appearance of Gaucher cells, which are macrophages filled with glucocerebroside.
• Gaucher disease is the most common lysosomal storage disorder.

Why Other Options Were Wrong

• Option A: This option incorrectly combines the enzyme defect of Niemann-Pick disease (Sphingomyelinase) with the enzyme defect of Gaucher disease (Beta-glucocerebrosidase). A single disease would not have both enzyme defects.
• Option B: This option correctly pairs the features of Niemann-Pick disease (Sphingomyelinase defect and Foamy macrophages). However, the question implicitly asks for one of the correct pairings, and this is a valid alternative pairing for a different disease, making the question ambiguous. Based on the provided answer key, this is considered the distractor.
• Option D: This option incorrectly combines the cellular appearance of Niemann-Pick disease (Foamy macrophages) with the cellular appearance of Gaucher disease (Crumpled tissue paper). A single disease does not exhibit both microscopic findings.

Related Visual

Clinical Relevance

• Nursing practice connection: Knowing Features of Lysosomal Storage Diseases (Gaucher vs. Niemann-Pick) helps nurses interpret findings accurately and avoid errors in routine assessment, medication administration, and patient teaching.
• Recognizing 'red herring' information in a clinical vignette is a critical test-taking skill. The stem may provide a detailed patient case that is completely unrelated to the actual question being asked in the options.
• Lysosomal storage diseases like Gaucher and Niemann-Pick are important genetic disorders with distinct enzymatic and cellular features. Nurses may be involved in the care of these patients, including administration of enzyme replacement therapy (for Gaucher disease) and providing supportive care.
• What if the question stem was about a patient with hepatosplenomegaly and bone pain, and the options were the same? In that case, the clinical picture would strongly point towards Gaucher disease, making the 'B and D' option the most fitting answer, as these are classic signs of Gaucher disease.

How to Approach the Question

• First, analyze the clinical vignette in the stem. Identify the key features: acute hemolysis after a drug trigger, suggesting G6PD deficiency.
• Next, carefully read the four statements (A, B, C, D) and the options which are combinations of these statements.
• Recognize the disconnect: The stem describes G6PD deficiency, but the statements describe features of other diseases (enzyme defects and cell morphology).
• Conclude that the clinical stem is a distractor. The task is to evaluate the statements and their pairings in the options for factual accuracy.
• Evaluate the pairings: Determine which statements go together. (A) Sphingomyelinase defect pairs with (C) Foamy macrophages (Niemann-Pick disease). (B) Beta-glucocerebrosidase defect pairs with (D) Crumpled tissue paper appearance (Gaucher disease).
• Since both (A and C) and (B and D) are factually correct pairings for two different diseases, the question is ambiguous. However, in a single-best-answer format, you must choose one. Select the option that represents a correct, internally consistent set of features for a single disease.

Concept Tested & Keywords

• Concept Tested: Features of Lysosomal Storage Diseases (Gaucher vs. Niemann-Pick)
• Stem keywords: G6PD deficiency, HMP shunt pathway, fatigue, jaundice, dark urine, anemia
• Lead-in keywords: correctly describe
• Clinical cues: The clinical vignette describing G6PD deficiency is a 'red herring' or distractor, as the options relate to different genetic disorders (lysosomal storage diseases).

Question ID

QK-tTJG62TXfuh18khpt4U

Copy ID

Reference Book

E6 Medicine Harrison 22e Part 1 p. 838-840

E6 Nelson Textbook of Pediatrics(2024) — Volume 2 p. 783-785

E6 Textbook of Biochemistry for medical StudentsDM Vasudevan Part 1 (pp 26-370 of 370) p. 65-67