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    BioPatel is offline Member
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    severe muscle cramps and weakness with even mild exercise

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    A 24-year-old graduate student presents to a physician with complaints of severe muscle cramps and weakness with even mild exercise. Muscle biopsy demonstrates glycogen accumulation, but hepatic biopsy is unremarkable. Which of the following is the most likely diagnosis?

    A. Hartnup's disease
    B. Krabbe's disease
    C. McArdle's disease
    D. Niemann-Pick disease
    E. Von Gierke's disease

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    Asclepius1 is offline Ultimate Member 537 points
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    C.

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    BioPatel is offline Member
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    The correct answer is C. A variety of glycogen storage diseases exist, corresponding to defects in different enzymes in glycogen metabolism; most of these involve the liver. McArdle's disease (Type V glycogen storage disease), due to a defect in muscle phosphorylase, is restricted to skeletal muscle. The presentation described in the question stem is typical. Many affected individuals also experience myoglobinuria. Definitive diagnosis is based on demonstration of myophosphorylase deficiency.
    Hartnup's disease (choice A) is a disorder of amino acid transport.

    Krabbe's disease (choice B) is a lysosomal storage disease.

    Niemann-Pick disease (choice D) is a lysosomal storage disease.

    Von Gierke's disease (choice E) is a glycogen storage disease with prominent involvement of liver, intestine, and kidney.

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