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....
Main Authors: | , , , , , , |
---|---|
Format: | Article |
Language: | English |
Published: |
Elsevier
2020-12-01
|
Series: | Molecular Genetics and Metabolism Reports |
Subjects: | |
Online Access: | http://www.sciencedirect.com/science/article/pii/S2214426920300926 |
id |
doaj-0693708412b94132acfceb32145e99f7 |
---|---|
record_format |
Article |
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 |
work_keys_str_mv |
AT kinzanoman clinicaloutcomesinanadultpatientwithmannosephosphateisomerasecongenitaldisorderofglycosylationwhodiscontinuedmannosetherapy AT christianjhendriksz clinicaloutcomesinanadultpatientwithmannosephosphateisomerasecongenitaldisorderofglycosylationwhodiscontinuedmannosetherapy AT grahamradcliffe clinicaloutcomesinanadultpatientwithmannosephosphateisomerasecongenitaldisorderofglycosylationwhodiscontinuedmannosetherapy AT federicoroncaroli clinicaloutcomesinanadultpatientwithmannosephosphateisomerasecongenitaldisorderofglycosylationwhodiscontinuedmannosetherapy AT sullemanmoreea clinicaloutcomesinanadultpatientwithmannosephosphateisomerasecongenitaldisorderofglycosylationwhodiscontinuedmannosetherapy AT afifahhussain clinicaloutcomesinanadultpatientwithmannosephosphateisomerasecongenitaldisorderofglycosylationwhodiscontinuedmannosetherapy AT karolinamstepien clinicaloutcomesinanadultpatientwithmannosephosphateisomerasecongenitaldisorderofglycosylationwhodiscontinuedmannosetherapy |
_version_ |
1724377718409134080 |