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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Bundle The mannose phosphate isomerase-congenital disorder of glycosylation (MPI-CDG) is caused by phosphomannose isomerase deficiency.Clinical features 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 Nails of an adult female patient who discontinued mannose therapy in her adolescence.In adulthood she developed gastrointestinal problems, chronic anaemia and osteophytes in her knees.