Diseases Studied
The Rare Diseases Clinical Research Network is an NIH-funded research network of 21 active consortia or research groups working to advance treatment for diseases that are rare. Use the search tools on this page to find the diseases we currently study. You can reach out to the indicated consortia or research groups for more information on those diseases and studies underway.
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All Diseases > VMA21-congenital disorder of glycosylation
VMA21-congenital disorder of glycosylation (VMA21-CDG)
Alternative Names: VMA21 Deficiency With Liver Disease
Disease Category: Congenital Disorders of Glycosylation
VMA21-CDG is an extremely rare inherited condition that has only very recently been reported to cause CDG. There are only three individuals with VMA21-CDG that have been published in the medical literature so far. The main symptoms that have been described are fatty liver disease (steatohepatitis) with chronic elevation of liver transaminases (called ALT and AST) and mild hyperlipidemia (an increase in total blood cholesterol, specifically LDL cholesterol).