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

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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Main Authors: Kinza Noman, Christian J. Hendriksz, Graham Radcliffe, Federico Roncaroli, Sulleman Moreea, Afifah Hussain, Karolina M. Stepien
Format: Article
Language:English
Published: Elsevier 2020-12-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Mannose phosphate isomerase-congenital disorder of glycosylation
MPI-CDG
Phosphomannose isomerase
Adult
Clinical outcomes
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426920300926
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spelling doaj-0693708412b94132acfceb32145e99f72020-12-19T05:07:14ZengElsevierMolecular Genetics and Metabolism Reports2214-42692020-12-0125100646Clinical outcomes in an adult patient with mannose phosphate isomerase-congenital disorder of glycosylation who discontinued mannose therapyKinza Noman0Christian J. Hendriksz1Graham Radcliffe2Federico Roncaroli3Sulleman Moreea4Afifah Hussain5Karolina M. Stepien6Medical School, University of Manchester, United KingdomUniversity of Pretoria, Steve Biko Academic Unit, Paediatrics and Child Health, Pretoria, South AfricaOrthopaedic Department, Bradford Royal Infirmary, Bradford, United KingdomDivision of Neuroscience and Experimental Psychology, School of Biology, Medicine and Health, University of Manchester and Manchester Centre for Clinical Neuroscience, Salford Royal NHS Foundation Trust, United KingdomGastroenterology Department, Bradford Royal Infirmary, Bradford, United KingdomUrgent Ambulatory Care, Bradford Royal Infirmary, Bradford, United KingdomAdult Inherited Metabolic Diseases, Salford Royal NHS Foundation Trust, Salford M6 8HD, United Kingdom; Corresponding author.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.http://www.sciencedirect.com/science/article/pii/S2214426920300926Mannose phosphate isomerase-congenital disorder of glycosylationMPI-CDGPhosphomannose isomeraseAdultClinical outcomes
collection DOAJ
language English
format Article
sources DOAJ
author Kinza Noman
Christian J. Hendriksz
Graham Radcliffe
Federico Roncaroli
Sulleman Moreea
Afifah Hussain
Karolina M. Stepien
spellingShingle Kinza Noman
Christian J. Hendriksz
Graham Radcliffe
Federico Roncaroli
Sulleman Moreea
Afifah Hussain
Karolina M. Stepien
Clinical outcomes in an adult patient with mannose phosphate isomerase-congenital disorder of glycosylation who discontinued mannose therapy
Molecular Genetics and Metabolism Reports
Mannose phosphate isomerase-congenital disorder of glycosylation
MPI-CDG
Phosphomannose isomerase
Adult
Clinical outcomes
author_facet Kinza Noman
Christian J. Hendriksz
Graham Radcliffe
Federico Roncaroli
Sulleman Moreea
Afifah Hussain
Karolina M. Stepien
author_sort Kinza Noman
title 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_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_sort clinical outcomes in an adult patient with mannose phosphate isomerase-congenital disorder of glycosylation who discontinued mannose therapy
publisher Elsevier
series Molecular Genetics and Metabolism Reports
issn 2214-4269
publishDate 2020-12-01
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.
topic Mannose phosphate isomerase-congenital disorder of glycosylation
MPI-CDG
Phosphomannose isomerase
Adult
Clinical outcomes
url http://www.sciencedirect.com/science/article/pii/S2214426920300926
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