MPI-CDG
MPI-CDG
MPI-CDG (pronunciation: em-pi-si-di-ji), also known as Mannose-Phosphate Isomerase Congenital Disorders of Glycosylation (pronunciation: man-ohs-fos-fate iso-may-riz-um con-gen-i-tal dis-or-ders of gly-co-sy-la-tion), is a rare genetic disorder that affects the body's ability to properly glycosylate proteins and lipids. This disorder is caused by mutations in the MPI gene.
Etymology
The term MPI-CDG is an acronym derived from the name of the gene (Mannose-Phosphate Isomerase) that is mutated in this disorder and the general class of disorders it belongs to (Congenital Disorders of Glycosylation).
Symptoms
Symptoms of MPI-CDG can vary widely among affected individuals. They may include failure to thrive, liver disease, coagulation abnormalities, and hypoglycemia. Some individuals may also have developmental delay and intellectual disability.
Diagnosis
Diagnosis of MPI-CDG is typically made through genetic testing, which can identify mutations in the MPI gene. Additional tests may be performed to assess the individual's glycosylation status and to evaluate for any associated complications.
Treatment
Treatment for MPI-CDG is primarily supportive and may include dietary supplementation with mannose, management of hypoglycemia, and treatment of liver disease and coagulation abnormalities.
See also
References
External links
- Medical encyclopedia article on MPI-CDG
- Wikipedia's article - MPI-CDG
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