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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Main Authors:	Tawhida Y. Abdel Ghaffar, Bobby G. Ng, Solaf M. Elsayed, Suzan El Naghi, Sarah Helmy, Nermine Mohammed, Ahmed El Hennawy, Hudson H. Freeze
Format:	Article
Language:	English
Published:	Wiley 2020-11-01
Series:	JIMD Reports
Subjects:	genetic variants liver involvement mannose MPI‐CDG portal hypertension
Online Access:	https://doi.org/10.1002/jmd2.12159

id	doaj-b8bb74acd9694e35a7e695786db69adf
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spelling	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	AT tawhidayabdelghaffar mpicdgfromahepaticperspectivereportoftwoegyptiancasesandreviewofliterature AT bobbygng mpicdgfromahepaticperspectivereportoftwoegyptiancasesandreviewofliterature AT solafmelsayed mpicdgfromahepaticperspectivereportoftwoegyptiancasesandreviewofliterature AT suzanelnaghi mpicdgfromahepaticperspectivereportoftwoegyptiancasesandreviewofliterature AT sarahhelmy mpicdgfromahepaticperspectivereportoftwoegyptiancasesandreviewofliterature AT nerminemohammed mpicdgfromahepaticperspectivereportoftwoegyptiancasesandreviewofliterature AT ahmedelhennawy mpicdgfromahepaticperspectivereportoftwoegyptiancasesandreviewofliterature AT hudsonhfreeze mpicdgfromahepaticperspectivereportoftwoegyptiancasesandreviewofliterature
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MPI‐CDG from a hepatic perspective: Report of two Egyptian cases and review of literature

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