Work

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

Year: 2020

Type: article

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.

Source: JIMD Reports

DOI: 10.1002/jmd2.12159