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

JIMD Reports
Tawhida Y Abdel GhaffarH H Freeze

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.

References

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Apr 9, 2020·Journal of Inherited Metabolic Disease·Anna ČechováTomáš Honzík

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Citations

Jun 27, 2021·Journal of Pediatric Gastroenterology and Nutrition·Rossella ColantuonoClaudia Mandato

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Methods Mentioned

BETA
glycosylation
biopsy

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