Clinical outcomes in an adult patient with mannose phosphate isomerase-congenital disorder of glycosylation who discontinued mannose therapy

Clinical outcomes in an adult patient with mannose phosphate isomerase-congenital disorder of glycosylation who discontinued mannose therapy

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The mannose phosphate isomerase-congenital disorder of glycosylation (MPI-CDG) is caused by phosphomannose isomerase deficiency.Clinical features Bowl Damper include hyperinsulinaemic hypoglycaemia, protein losing enteropathy, hepatomegaly and hepatic fibrosis, digestive symptoms and coagulation abnormalities.The condition is treated with mannose supplementation.Long-term outcomes in adults are not well described.We present a case of an adult female patient who discontinued Video Game Controller mannose therapy in her adolescence.

In adulthood she developed gastrointestinal problems, chronic anaemia and osteophytes in her knees.