Manifestations and Management of Hepatic Dysfunction in Congenital Disorders of Glycosylation

Abstract

The congenital disorders of glycosylation (CDG) are rare genetic disorders that disrupt the posttranslational modification of glycoproteins and the synthesis of glycolipids. These disorders exhibit cellular and tissue dysfunction across nearly every organ system, including the liver, which is a major source of glycoprotein production and secretion. The initial presentation of CDG often involves liver or gastrointestinal (GI) dysfunction. 1 There are approximately 150 identified genetic causes of CDG, and an increasing number of treatment options are being discovered, including