🏥 USMLE Exam Prep

A 6-month-old infant presents with cardiomegaly, hypotonia, and macroglossia. Enzyme analysis reveals a deficiency in acid alpha-glucosidase (acid maltase). Which of the following is the most likely diagnosis?

A McArdle disease
B Pompe disease
C Cori disease
D Tay-Sachs disease

✓ Correct Answer: Option B

Pompe disease (Glycogen Storage Disease Type II) is caused by a deficiency in acid alpha-glucosidase (acid maltase), leading to glycogen accumulation in lysosomes, particularly affecting the heart, liver, and muscle, causing cardiomegaly and hypotonia.

💡 Why is B) the correct answer?

The correct answer to the question "A 6-month-old infant presents with cardiomegaly, hypotonia, and macroglossia. Enzyme analysis reveals a deficiency in acid alpha-glucosidase (acid maltase). Which of the following is the most likely diagnosis?" is Option B: Pompe disease.

The other options — A) McArdle disease, C) Cori disease, D) Tay-Sachs disease — are incorrect for this USMLE Exam Prep question. As explained above: Pompe disease (Glycogen Storage Disease Type II) is caused by a deficiency in acid alpha-glucosidase (acid maltase), leading to glycogen accumulation in lysosomes, particularly affecting the heart, l…

📚 About This USMLE Exam Prep Practice Question

This 2-level USMLE Exam Prep question from the Step 1 – Basic Sciences topic is part of BrainForge Quiz's free exam preparation library. Each question includes the correct answer and a detailed explanation to help you understand the underlying concept, not just memorize the answer.

How to use this page: Read the question above, consider all four options (A through D), then check the highlighted correct answer and explanation. For active timed practice, start a free USMLE Exam Prep practice test or use flashcards for spaced repetition review.

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