Congenital Disorder of Glycosylation (CDG) Ia is one of a group of rare and serious metabolic disorders linked to the same gene. In GDC Ia, the enzyme PPM, which is involved in metabolism, does not function adequately and growth of muscles and other tissues is affected. Severity varies among individuals and the condition can be fatal in infancy or managed into adulthood. More than 800 individuals have been identified with the condition worldwide.

The above information was compiled from multiple sources including the National Institutes of Health (NIH) Genetics Home Reference and Office of Rare Disease Research and the National Organization for Rare Disorders (NORD).  Click here for a list of organizations supporting this disease.

For information about genetic screening or to find a genetic counselor in your area, visit Knowyourgenes.org