In Pompe disease, which biomarkers may be elevated?

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Prepare for the Muscular Dystrophy Test with comprehensive flashcards and multiple-choice questions. Access detailed hints and explanations for each question to enhance your study experience. Equip yourself for success on your upcoming exam!

Multiple Choice

In Pompe disease, which biomarkers may be elevated?

Explanation:
In Pompe disease, glycogen builds up in lysosomes of both muscle and liver, leading to damage in those tissues. When skeletal muscles are affected, the muscle cell membranes leak enzymes like creatine kinase into the bloodstream, so CK levels rise. The liver is also involved, especially in the infantile form with hepatomegaly, so liver enzymes such as AST and ALT can be elevated as well. While cardiac injury can raise troponin in cases with cardiomyopathy, and aldolase can be elevated in various muscle diseases, the pattern most commonly seen in Pompe is a rise in both CK and liver enzymes due to combined muscle and liver involvement.

In Pompe disease, glycogen builds up in lysosomes of both muscle and liver, leading to damage in those tissues. When skeletal muscles are affected, the muscle cell membranes leak enzymes like creatine kinase into the bloodstream, so CK levels rise. The liver is also involved, especially in the infantile form with hepatomegaly, so liver enzymes such as AST and ALT can be elevated as well. While cardiac injury can raise troponin in cases with cardiomyopathy, and aldolase can be elevated in various muscle diseases, the pattern most commonly seen in Pompe is a rise in both CK and liver enzymes due to combined muscle and liver involvement.

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