Ontology highlight
ABSTRACT:
SUBMITTER: Moravej H
PROVIDER: S-EPMC7012739 | biostudies-literature | 2020 Jan
REPOSITORIES: biostudies-literature
Moravej Hossein H Altassan Ruqaiah R Jaeken Jaak J Enns Gregory M GM Ellaway Carolyn C Balasubramaniam Shanti S De Lonlay Pascale P Coman David D Mercimek-Andrews Saadet S Witters Peter P Morava Eva E
JIMD reports 20191125 1
<h4>Background</h4>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.<h4>Methods</h4>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 t ...[more]