MPI-congenital disorder of glycosylation

MPI-congenital disorder of glycosylation (MPI-CDG) is a rare condition that affects how certain sugar molecules attach to proteins, a process called glycosylation. This condition is part of a group of disorders known as congenital disorders of N-linked glycosylation. The clinical presentation is variable, even among family members, and can include several serious health issues.

People with MPI-CDG may experience cyclic vomiting, severe low blood sugar (profound hypoglycemia), and failure to thrive. Liver problems, such as liver fibrosis, are also common. There can be significant gastrointestinal complications, including protein-losing enteropathy and potentially life-threatening intestinal bleeding. In addition, there is an increased risk of blood clotting issues due to low levels of proteins that help regulate clotting. Despite these symptoms, neurological development and cognitive capacity are usually normal.

MPI-CDG is caused by a loss-of-function change in the MPI gene, which is located on chromosome 15q24.1. This gene is essential for proper glycosylation, and its deficiency leads to the various symptoms observed in this condition.

Information about treatment is currently limited for this condition.

The outlook for people with MPI-CDG can vary, even among those in the same family. While some experience serious complications like liver fibrosis, significant gastrointestinal issues, and blood clotting problems, neurological development is usually unaffected. The overall quality of life depends on the severity and management of the various symptoms.

Information about research is currently limited for this condition.