MPI‐CDG from a hepatic perspective: Report of two Egyptian cases and review of literature

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) showe...

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Autores principales: Abdel Ghaffar, Tawhida Y., Ng, Bobby G., Elsayed, Solaf M., El Naghi, Suzan, Helmy, Sarah, Mohammed, Nermine, El Hennawy, Ahmed, Freeze, Hudson H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2020
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7653262/
https://www.ncbi.nlm.nih.gov/pubmed/33204592
http://dx.doi.org/10.1002/jmd2.12159
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author Abdel Ghaffar, Tawhida Y.
Ng, Bobby G.
Elsayed, Solaf M.
El Naghi, Suzan
Helmy, Sarah
Mohammed, Nermine
El Hennawy, Ahmed
Freeze, Hudson H.
author_facet Abdel Ghaffar, Tawhida Y.
Ng, Bobby G.
Elsayed, Solaf M.
El Naghi, Suzan
Helmy, Sarah
Mohammed, Nermine
El Hennawy, Ahmed
Freeze, Hudson H.
author_sort Abdel Ghaffar, Tawhida Y.
collection PubMed
description 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.
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spelling pubmed-76532622020-11-16 MPI‐CDG from a hepatic perspective: Report of two Egyptian cases and review of literature Abdel Ghaffar, Tawhida Y. Ng, Bobby G. Elsayed, Solaf M. El Naghi, Suzan Helmy, Sarah Mohammed, Nermine El Hennawy, Ahmed Freeze, Hudson H. JIMD Rep Case Reports 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. John Wiley & Sons, Inc. 2020-09-07 /pmc/articles/PMC7653262/ /pubmed/33204592 http://dx.doi.org/10.1002/jmd2.12159 Text en © 2020 The Authors. JIMD Reports published by John Wiley & Sons Ltd on behalf of SSIEM. This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Abdel Ghaffar, Tawhida Y.
Ng, Bobby G.
Elsayed, Solaf M.
El Naghi, Suzan
Helmy, Sarah
Mohammed, Nermine
El Hennawy, Ahmed
Freeze, Hudson H.
MPI‐CDG from a hepatic perspective: Report of two Egyptian cases and review of literature
title 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_short 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
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7653262/
https://www.ncbi.nlm.nih.gov/pubmed/33204592
http://dx.doi.org/10.1002/jmd2.12159
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