MPI-CDG is an autosomal recessive

congenital disorder of glycosylation A congenital disorder of glycosylation (previously called carbohydrate-deficient glycoprotein syndrome) is one of several rare inborn errors of metabolism in which glycosylation of a variety of tissue proteins and/or lipids is deficient or defecti ...

caused by biallelic pathogenic variants in ''

MPI MPI or Mpi may refer to: Science and technology Biology and medicine * Magnetic particle imaging, an emerging non-invasive tomographic technique * Myocardial perfusion imaging, a nuclear medicine procedure that illustrates the function of the hear ...

''. The clinical symptoms in MPI-CDG are caused by deficient activity of the enzyme

mannose phosphate isomerase Mannose-6 phosphate isomerase (MPI), alternately phosphomannose isomerase (PMI) () is an enzyme which facilitates the interconversion of fructose 6-phosphate (F6P) and mannose-6-phosphate (M6P). Mannose-6-phosphate isomerase may also enable the sy ...

. Clinically, the most common symptoms of MPI-CDG are chronic

diarrhea Diarrhea, also spelled diarrhoea, is the condition of having at least three loose, liquid, or watery bowel movements each day. It often lasts for a few days and can result in dehydration due to fluid loss. Signs of dehydration often begin wi ...

, failure to thrive, protein-losing enteropathy, and coagulopathy. MPI-CDG differs from most other described glycosylation disorders due to its lack of central nervous system involvement, and because it has treatment options besides supportive care. Treatment with oral

mannose Mannose is a sugar monomer of the aldohexose series of carbohydrates. It is a C-2 epimer of glucose. Mannose is important in human metabolism, especially in the glycosylation of certain proteins. Several congenital disorders of glycosylation ...

has been shown to improve most symptoms of the disease. If left untreated, MPI-CDG can be fatal. MPI-CDG was previously known as CDG-IB. The disorder was first described clinically in 1986, and the underlying genetic defect was identified in 1998.

References

{{Medicine, state=collapsed Autosomal recessive disorders Genetic diseases and disorders Congenital disorders of glycosylation