Congenital Disorder of Glycosylation, Type Ib (MPI)

Congenital disorder of glycosylation, type Ib is a rare autosomal recessive disease which appears to be more frequently identified in Caucasians and French Canadians than other populations. It is caused by pathogenic variants in the gene MPI. Onset occurs in infancy, where the main clinical symptoms include failure to thrive due to severe diarrhea and vomiting and fibrosis of the liver that may progress to hepatic insufficiency. Effective treatment for this disorder exists in the form of oral supplementation. Therefore, life expectancy is good if treatment is begun early. No genotype-phenotype correlation has been reported.

For information about carrier frequency and residual risk, please see the residual risk table.

This gene is included on the following panel(s):