vi medicine informatics




Pompe disease is an autosomal recessive disease that is characterized by a deficiency or defect in lysosomal α1,4-glucosidase. This enzyme is necessary for the dissolution of the polymer linkages in glycogen. In its absence, glycogen accumulates to toxic levels in both the cytoplasm and lysosomes. Glycogen buildup in skeletal muscle, cardiac myocytes, neurons, and hepatocytes results in weakness and failure of these organ systems, unless the infant receives enzyme replacement therapy.

tags: oneliner