Congenital disorder of glycosylation type 1a

Congenital disorder of glycosylation type 1a (CDG-1a) is an inherited disease characterized by variable developmental delays and muscle and bone problems that change with age. It involves defects in the enzyme phosphomannomutase 2 (PMM2). This enzyme is important in the cellular process of attaching sugars to proteins (glycosylation). The symptoms of CDG-1a are due to abnormalities in the glycosylation process, which leads to a wide variety of symptoms throughout the body. View testing options