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

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....

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Autores principales: Noman, Kinza, Hendriksz, Christian J., Radcliffe, Graham, Roncaroli, Federico, Moreea, Sulleman, Hussain, Afifah, Stepien, Karolina M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7490551/
https://www.ncbi.nlm.nih.gov/pubmed/32963965
http://dx.doi.org/10.1016/j.ymgmr.2020.100646
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author Noman, Kinza
Hendriksz, Christian J.
Radcliffe, Graham
Roncaroli, Federico
Moreea, Sulleman
Hussain, Afifah
Stepien, Karolina M.
author_facet Noman, Kinza
Hendriksz, Christian J.
Radcliffe, Graham
Roncaroli, Federico
Moreea, Sulleman
Hussain, Afifah
Stepien, Karolina M.
author_sort Noman, Kinza
collection PubMed
description 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 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.
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spelling pubmed-74905512020-09-21 Clinical outcomes in an adult patient with mannose phosphate isomerase-congenital disorder of glycosylation who discontinued mannose therapy Noman, Kinza Hendriksz, Christian J. Radcliffe, Graham Roncaroli, Federico Moreea, Sulleman Hussain, Afifah Stepien, Karolina M. Mol Genet Metab Rep Case Report 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 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. Elsevier 2020-09-07 /pmc/articles/PMC7490551/ /pubmed/32963965 http://dx.doi.org/10.1016/j.ymgmr.2020.100646 Text en © 2020 The Author(s) http://creativecommons.org/licenses/by/4.0/ This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Noman, Kinza
Hendriksz, Christian J.
Radcliffe, Graham
Roncaroli, Federico
Moreea, Sulleman
Hussain, Afifah
Stepien, Karolina M.
Clinical outcomes in an adult patient with mannose phosphate isomerase-congenital disorder of glycosylation who discontinued mannose therapy
title Clinical outcomes in an adult patient with mannose phosphate isomerase-congenital disorder of glycosylation who discontinued mannose therapy
title_full Clinical outcomes in an adult patient with mannose phosphate isomerase-congenital disorder of glycosylation who discontinued mannose therapy
title_fullStr Clinical outcomes in an adult patient with mannose phosphate isomerase-congenital disorder of glycosylation who discontinued mannose therapy
title_full_unstemmed Clinical outcomes in an adult patient with mannose phosphate isomerase-congenital disorder of glycosylation who discontinued mannose therapy
title_short Clinical outcomes in an adult patient with mannose phosphate isomerase-congenital disorder of glycosylation who discontinued mannose therapy
title_sort clinical outcomes in an adult patient with mannose phosphate isomerase-congenital disorder of glycosylation who discontinued mannose therapy
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7490551/
https://www.ncbi.nlm.nih.gov/pubmed/32963965
http://dx.doi.org/10.1016/j.ymgmr.2020.100646
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