Hypoglycemia in CDG patients due to PMM2 mutations: Follow up on hyperinsulinemic patients.

ABSTRACT:

Background

Phosphomannomutase 2 deficiency (PMM2-CDG) is the most common congenital disorder of glycosylation (CDG). Hypoglycemia has been reported in various CDG including PMM2-CDG. The frequency and etiology of hypoglycemia in PMM2-CDG are not well studied.

Methods

We conducted a systematic review of the literature on genetically and/or biochemically confirmed PMM2-CDG patients who developed hypoglycemia. Prospective follow-up information on the patients who received diazoxide therapy was collected and evaluated.

Results

A total of 165 peer-reviewed articles reporting on 933 PMM2-CDG patients were assessed. Hypoglycemia was specifically mentioned only in 23 of these patients (2.5%). Hyperinsulinism was identified in 10 patients (43% of all hypoglycemic patients). Am

SUBMITTER: Moravej H 

PROVIDER: S-EPMC7012739 | biostudies-literature | 2020 Jan

REPOSITORIES: biostudies-literature