Medical Definition of Pompe disease
— called also acid maltase deficiency
Note: Pompe disease has a severe infantile form appearing within the first months of life and typically causing death in the first year of life. It also has a late-onset form appearing in children or adults and having a slower progression that mainly affects skeletal muscle tissue. Pompe disease is inherited as an autosomal recessive trait requiring that both parents pass on a copy of the defective gene on a chromosome other than a sex chromosome.
- February 2021 Words of the Day Quiz Take the quiz
- More Confusing Words—Quiz Take the quiz
- Name That Thing Take the quiz
- Word Winder's CrossWinder Play the game