Congenital disorder of glycosylation (CDG) MPI-related is an inherited metabolic condition that disrupts the production of glycoproteins — proteins with attached carbohydrates. This disorder affects various body systems but notably spares the nervous system and does not affect intellect.
Untreated MPI-related CDG can lead to a range of issues, including chronic diarrhea, growth failure, protein loss, severe nausea, vomiting, low blood sugar (hypoglycemia), impaired blood clotting, and liver disease. Early diagnosis and treatment are crucial as this condition can be life-threatening. The condition is managed with ongoing oral mannose supplements, a type of sugar. Those with the condition who initiate mannose treatment typically experience improvements in many of its associated symptoms. Although liver disease may worsen despite treatment in some instances, there is a case where symptom improvement was observed following a successful liver transplant.
MPI-related CDG is caused by pathogenic (disease-causing) variants in the MPI gene and exhibits autosomal recessive inheritance. This means that both parents must be carriers to have a 25% chance to have a child with the condition. The risk of being a carrier is based on a person’s ancestry or ethnic background.
Resources:
Frontiers in Congenital Disorders of Glycosylation
Revised September 2023
