E74.02

Pompe disease

An autosomal recessive inherited type of glycogen storage disease caused by deficiency of the enzyme acid alpha-glucosidase. It results in the abnormal accumulation of glycogen in the heart, skeletal muscles, liver, and nervous system.

An autosomal recessively inherited glycogen storage disease caused by glucan 1,4-alpha-glucosidase deficiency. Large amounts of glycogen accumulate in the lysosomes of skeletal muscle muscle, skeletal); heart; liver; spinal cord; and brain. Three forms have been described: infantile, childhood, and adult. The infantile form is fatal in infancy and presents with hypotonia and a hypertrophic cardiomyopathy cardiomyopathy, hypertrophic). The childhood form usually presents in the second year of life with proximal weakness and respiratory symptoms. The adult form consists of a slowly progressive proximal myopathy. from muscle nerve 1995;3:s61-9; menkes, textbook of child neurology, 5th ed, pp73-4)

Autosomal recessively inherited glycogen storage disease caused by glucan 1,4-alpha-glucosidase deficiency; large amounts of glycogen accumulate in the lysosomes of skeletal muscle, heart, liver, spinal cord, and brain; three forms have been described: the infantile form is fatal in infancy and presents with hypotonia and a hypertrophic cardiomyopathy; the childhood form usually presents in the second year of life with proximal weakness and respiratory symptoms; the adult form consists of a slowly progressive proximal myopathy.

E74.02 is a billable/specific ICD-10-CM code that can be used to indicate a diagnosis for reimbursement purposes.

This is the American ICD-10-CM version of E74.02 – other international versions of ICD-10 E74.02 may differ.