1. <scp>MPI‐CDG</scp> from a hepatic perspective: Report of two Egyptian cases and review of literature
- Author
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Bobby G. Ng, Suzan El Naghi, Tawhida Y. Abdel Ghaffar, Ahmed Mohamed Yehia El Hennawy, Nermine Mohammed, Sarah Helmy, Hudson H. Freeze, and Solaf M. Elsayed
- Subjects
congenital, hereditary, and neonatal diseases and abnormalities ,medicine.medical_specialty ,lcsh:QH426-470 ,Endocrinology, Diabetes and Metabolism ,Carbohydrate deficient transferrin ,Mannose ,Case Report ,Case Reports ,Hypoglycemia ,lcsh:Diseases of the endocrine glands. Clinical endocrinology ,Biochemistry, Genetics and Molecular Biology (miscellaneous) ,Gastroenterology ,chemistry.chemical_compound ,Internal medicine ,Internal Medicine ,Medicine ,lcsh:RC648-665 ,business.industry ,genetic variants ,mannose ,Genetic variants ,portal hypertension ,medicine.disease ,Molecular analysis ,lcsh:Genetics ,chemistry ,Portal hypertension ,business ,MPI‐CDG ,Congenital disorder of glycosylation ,liver involvement - 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.
- Published
- 2020