MPI‐CDG from a hepatic perspective: Report of two Egyptian cases and review of literature
Abstract MPI‐CDG is a rare congenital disorder of glycosylation (CDG) which presents with hepato‐gastrointestinal symptoms and hypoglycemia. We report on hepatic evaluation of two pediatric patients who presented to us with gastrointestinal symptoms. Analysis of carbohydrate deficient transferrin (C...
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Online Access: | https://doi.org/10.1002/jmd2.12159 |
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doaj-b8bb74acd9694e35a7e695786db69adf2020-11-25T03:57:01ZengWileyJIMD Reports2192-83122020-11-01561202610.1002/jmd2.12159MPI‐CDG from a hepatic perspective: Report of two Egyptian cases and review of literatureTawhida Y. Abdel Ghaffar0Bobby G. Ng1Solaf M. Elsayed2Suzan El Naghi3Sarah Helmy4Nermine Mohammed5Ahmed El Hennawy6Hudson H. Freeze7Yassin Abdel Ghaffar Charity Centre for Liver Disease and Research Cairo EgyptSanford Burnham Prebys Medical Discovery Institute. Human Genetics Program La Jolla California USAYassin Abdel Ghaffar Charity Centre for Liver Disease and Research Cairo EgyptYassin Abdel Ghaffar Charity Centre for Liver Disease and Research Cairo EgyptYassin Abdel Ghaffar Charity Centre for Liver Disease and Research Cairo EgyptYassin Abdel Ghaffar Charity Centre for Liver Disease and Research Cairo EgyptPathology Department Cairo University Cairo EgyptSanford Burnham Prebys Medical Discovery Institute. Human Genetics Program La Jolla California USAAbstract MPI‐CDG is a rare congenital disorder of glycosylation (CDG) which presents with hepato‐gastrointestinal symptoms and hypoglycemia. We report on hepatic evaluation of two pediatric patients who presented to us with gastrointestinal symptoms. Analysis of carbohydrate deficient transferrin (CDT) showed a Type 1 pattern and molecular analysis confirmed the diagnosis of MPI‐CDG. Oral mannose therapy was markedly effective in one patient but was only partially effective in the other who showed progressive portal hypertension.https://doi.org/10.1002/jmd2.12159genetic variantsliver involvementmannoseMPI‐CDGportal hypertension |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Tawhida Y. Abdel Ghaffar Bobby G. Ng Solaf M. Elsayed Suzan El Naghi Sarah Helmy Nermine Mohammed Ahmed El Hennawy Hudson H. Freeze |
spellingShingle |
Tawhida Y. Abdel Ghaffar Bobby G. Ng Solaf M. Elsayed Suzan El Naghi Sarah Helmy Nermine Mohammed Ahmed El Hennawy Hudson H. Freeze MPI‐CDG from a hepatic perspective: Report of two Egyptian cases and review of literature JIMD Reports genetic variants liver involvement mannose MPI‐CDG portal hypertension |
author_facet |
Tawhida Y. Abdel Ghaffar Bobby G. Ng Solaf M. Elsayed Suzan El Naghi Sarah Helmy Nermine Mohammed Ahmed El Hennawy Hudson H. Freeze |
author_sort |
Tawhida Y. Abdel Ghaffar |
title |
MPI‐CDG from a hepatic perspective: Report of two Egyptian cases and review of literature |
title_short |
MPI‐CDG from a hepatic perspective: Report of two Egyptian cases and review of literature |
title_full |
MPI‐CDG from a hepatic perspective: Report of two Egyptian cases and review of literature |
title_fullStr |
MPI‐CDG from a hepatic perspective: Report of two Egyptian cases and review of literature |
title_full_unstemmed |
MPI‐CDG from a hepatic perspective: Report of two Egyptian cases and review of literature |
title_sort |
mpi‐cdg from a hepatic perspective: report of two egyptian cases and review of literature |
publisher |
Wiley |
series |
JIMD Reports |
issn |
2192-8312 |
publishDate |
2020-11-01 |
description |
Abstract MPI‐CDG is a rare congenital disorder of glycosylation (CDG) which presents with hepato‐gastrointestinal symptoms and hypoglycemia. We report on hepatic evaluation of two pediatric patients who presented to us with gastrointestinal symptoms. Analysis of carbohydrate deficient transferrin (CDT) showed a Type 1 pattern and molecular analysis confirmed the diagnosis of MPI‐CDG. Oral mannose therapy was markedly effective in one patient but was only partially effective in the other who showed progressive portal hypertension. |
topic |
genetic variants liver involvement mannose MPI‐CDG portal hypertension |
url |
https://doi.org/10.1002/jmd2.12159 |
work_keys_str_mv |
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