MPI-CDG from a hepatic perspective: Report of two Egyptian cases and review of literature.
JIMD Rep
; 56(1): 20-26, 2020 Nov.
Article
en En
| MEDLINE
| ID: mdl-33204592
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.
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Colección:
01-internacional
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MEDLINE
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En
Revista:
JIMD Rep
Año:
2020
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Article