Naoman, KinzaHendriksz, Christian J.Radcliffe, GrahamRoncaroli, FedericoMoreea, SullemanHussain, AfifahStepien, Karolina M.2021-05-212021-05-212020-12Noman, K., Hendriksz, C.J., Radcliffe, G. et al. 2020, 'Clinical outcomes in an adult patient with mannose phosphate isomerase-congenital disorder of glycosylation who discontinued mannose therapy', Molecular Genetics and Metabolism Reports, vol. 25, pp. 1-4.2214-426910.1016/j.ymgmr.2020.100646http://hdl.handle.net/2263/79997The 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 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.en© 2020 The Author(s). This is an open access article under the CC BY license.AdultClinical outcomesMannose phosphate isomerase-congenital disorder of glycosylation (MPI-CDG)Phosphomannose isomerase deficiencyCoagulation abnormalitiesDigestive symptomsHyperinsulinaemic hypoglycaemiaProtein losing enteropathyHepatomegalyHepatic fibrosisArticle