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 (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.

• Authors: Tawhida Y Abdel Ghaffar, Bobby G Ng, Solaf M Elsayed, Suzan El Naghi, Sarah Helmy, Nermine Mohammed, Ahmed El Hennawy, Hudson H Freeze
• Journal: JIMD reports (JIMD Rep) Vol. 56 Issue 1 Pg. 20-26 (Nov 2020) ISSN: 2192-8304 [Print] United States
• PMID: 33204592 (Publication Type: Case Reports)
• Copyright: © 2020 The Authors. JIMD Reports published by John Wiley & Sons Ltd on behalf of SSIEM.