What disease results from deficiency of lysosomal a-1,4-glucosidase?

The disease that results from a deficiency of lysosomal α-1,4-glucosidase is Pompe's disease. This enzyme, also known as acid α-glucosidase, is critical for the breakdown of glycogen within lysosomes. When there is a deficiency of this enzyme, glycogen accumulates in various tissues, primarily affecting muscle cells, which leads to the symptoms associated with Pompe's disease.

Pompe's disease is characterized by progressive muscle weakness and hypertrophy due to the buildup of glycogen, which can severely impact both skeletal and cardiac muscles. Newborns with Pompe's disease may present with hypotonia, feeding difficulties, and progressive weakness soon after birth, indicating the importance of early diagnosis and management.

The other conditions listed involve different enzyme deficiencies or pathways. Gaucher's disease results from a deficiency of glucocerebrosidase, affecting lipid metabolism. Fabry disease is caused by a deficiency of alpha-galactosidase A, leading to ceramide trihexoside accumulation. Tay-Sachs disease is due to a deficiency in hexosaminidase A, which affects ganglioside metabolism primarily in the nervous system. Each of these conditions has a unique pathophysiology, differentiating them from Pompe