Mannose phosphate isomerase-congenital disorder of glycosylation (MPI-CDG) is a CDG presenting with a clinically recognizable presentation, including early hypoglycemia, coagulation defects, and gastrointestinal and hepatic symptoms. We report on a female patient with biallelic pathogenic mutations in the MPI gene who presented with recurrent respiratory infections and abnormal IgM levels, but none of the classic symptoms associated with MPI-CDG. Oral mannose therapy led to a fast improvement in serum IgM levels and transferrin glycosylation in our patient. The patient did not experience severe infections after the initiation of treatment. We also reviewed the immune phenotype in patients so far reported with MPI-CDG.
Keywords: CDG; MPI; glycosylation; mannose; recurrent infections; therapy.
Using a type of sugar called mannose to strengthen the immune system of a person living with a rare disease called MPI-congenital disorder of glycosylation Mannose phosphate isomerase–congenital disorder of glycosylation (MPI-CDG for short) is a rare, inherited disease that mainly affects the liver and digestive system. People with MPI-CDG typically develop signs and symptoms of the condition during childhood. Common symptoms of MPI-CDG include low blood sugar, blood clotting problems, poor growth, low weight, swelling of the lower legs or hands, digestive problems, and liver problems. Early diagnosis is crucial for people with MPI-CDG, as it is a potentially life-threatening, but treatable disease. Given that there are a small number of people with MPI-CDG, especially those with symptoms related to their immune system, it is important to highlight specific cases to raise awareness. This article summarizes a specific case study of a female child with MPI-CDG. This individual did not experience the usual signs and symptoms of the disease. However, she had multiple infections affecting her respiratory tract, and had abnormal levels of antibodies in her blood. The patient was treated with mannose, a type of sugar that is related to fructose and glucose. After 12 months of treatment, levels of antibodies stabilized. Furthermore, she did not experience any more severe infections after starting treatment with mannose. Tests designed to measure levels of glycosylation, called glycosylation transferrin testing, showed improvement in glycosylation to almost normal levels. In conclusion, this case report adds to the current knowledge about the disease and raises awareness that patients can present with immunological problems. It also shows that mannose treatment can be an effective treatment to improve the immune system and glycosylation in MPI-CDG.
© The Author(s), 2022.