Hemostatic defects in congenital disorders of glycosylation.

ABSTRACT: A "state of the Art" lecture titled "Hemostatic Defects in Congenital Disorders of Glycosylation" was presented at the ISTH 2022 congress. Congenital disorders of glycosylation (CDGs) are rare, inherited, metabolic diseases. The diagnosis of CDG is often challenging due to the broad variety of disorders, the variable level of severity, and phenotypic heterogeneity. Most CDGs are multisystem disorders, and neurologic involvement is frequent. Patients with CDG often present coagulation abnormalities characterized by low levels of procoagulant or anticoagulant factors. Antithrombin deficiency is frequently associated with factor XI deficiency and less frequently with a protein C, protein S, or factor IX deficiency. This coagulation profile differs from those observed in liver failure, dissemi

SUBMITTER: Pascreau T 

PROVIDER: S-EPMC10182314 | biostudies-literature | 2023 Mar

REPOSITORIES: biostudies-literature