Oneliner_1503

OneLiner

The combination of a systolic heart murmur, indicative of hypertrophic cardiomyopathy, and hypotonia point towards Pompe Disease or type II glycogen storage disease. Pompe disease is characterized by a deficiency of lysosomal alpha-1,4-glucosidase, which degrades glycogen to glucose within the lysosomes. Deficiency of this enzyme leads to accumulation of glycogen chains in the heart, liver, and muscle and causes hypertrophic cardiomyopathy, macroglossia, hypotonia, and exercise intolerance leading to early death.