MPI-CDG

MPI-CDG (also known as Mannose-Phosphate Isomerase Congenital Disorder of Glycosylation) is a rare genetic disorder that affects the body's ability to properly attach sugar molecules to proteins, a process known as glycosylation. This disorder is caused by mutations in the MPI gene.

Symptoms

The symptoms of MPI-CDG can vary widely among affected individuals. They can include hypoglycemia, protein-losing enteropathy, liver disease, and coagulation abnormalities. Some individuals may also have developmental delay or intellectual disability.

Causes

MPI-CDG is caused by mutations in the MPI gene. This gene provides instructions for making an enzyme called mannose phosphate isomerase, which is involved in the process of glycosylation. Mutations in the MPI gene disrupt the function of this enzyme, leading to the symptoms of MPI-CDG.

Diagnosis

Diagnosis of MPI-CDG is based on the presence of characteristic clinical features, laboratory testing showing abnormal glycosylation, and genetic testing confirming a mutation in the MPI gene.

Treatment

Treatment of MPI-CDG is focused on managing the symptoms and complications of the disorder. This can include dietary modifications, medications to manage hypoglycemia and liver disease, and therapies to address developmental delays or intellectual disability.

Prognosis

The prognosis for individuals with MPI-CDG can vary depending on the severity of symptoms and the presence of complications. With appropriate management, many individuals with MPI-CDG can live into adulthood.

See also

• Congenital disorder of glycosylation
• Glycosylation
• MPI gene
• Hypoglycemia
• Protein-losing enteropathy
• Liver disease
• Coagulation abnormalities

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