Pediatric glycogen storage disease type Ⅱ

Glycogen storage disease type 2 (Pompe disease) is an acid maltase deficiency disease, which is an autosomal recessive genetic disease. A class of disorders of glycogen metabolism caused by congenital enzyme defects. Mainly due to the lack of acid maltase, a large amount of glycogen accumulation occurs in various tissues throughout the body. The main symptoms are heart failure and muscle weakness, which can die from heart failure in childhood. Also known as Pompe disease, Pompe syndrome, disseminated glycogen accumulated cardiac hypertrophy, congenital heart rhabdomyomas, systemic glycogen accumulation neuromuscular type, glycogen heart syndrome and so on.

The material in this site is intended to be of general informational use and is not intended to constitute medical advice, probable diagnosis, or recommended treatments.