What enzyme deficiency causes Pompe disease?

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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

What enzyme deficiency causes Pompe disease?

Explanation:
Pompe disease is caused by a deficiency of acid alpha-glucosidase, a lysosomal enzyme that normally breaks down glycogen inside lysosomes. Without this enzyme, glycogen accumulates in lysosomes, especially in cardiac and skeletal muscles, leading to early-onset muscle weakness and, in infants, cardiomyopathy. The other conditions involve structural muscle proteins rather than enzymes—dystrophin deficiency causes Duchenne/Becker muscular dystrophy, while alpha-sarcoglycan and dysferlin deficiencies are other muscular dystrophy types related to membrane-related proteins. So the enzyme deficiency driving Pompe disease is acid alpha-glucosidase.

Pompe disease is caused by a deficiency of acid alpha-glucosidase, a lysosomal enzyme that normally breaks down glycogen inside lysosomes. Without this enzyme, glycogen accumulates in lysosomes, especially in cardiac and skeletal muscles, leading to early-onset muscle weakness and, in infants, cardiomyopathy. The other conditions involve structural muscle proteins rather than enzymes—dystrophin deficiency causes Duchenne/Becker muscular dystrophy, while alpha-sarcoglycan and dysferlin deficiencies are other muscular dystrophy types related to membrane-related proteins. So the enzyme deficiency driving Pompe disease is acid alpha-glucosidase.

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