World Congenital Disorders of Glycosylation (CDG) awareness day 16th May 2019. Why the 16th May? It is the birthday of Pf Jaeken's, the medical doctor that reported the first CDG patients more than 30 years ago. CDG are a group of metabolic disorders caused by the incorrect or absence of glycans on proteins or lipids. As many cases go unrecognised or misdiagnosed, the prevalence is difficult to determine, but it may be as high as 1:20,000. Symptoms can vary even within the same subtype or even among family members. Some forms can be treated but most do not have specific medication. Hence the international collaboration between clinicians, families and researchers offers hope of scientific breakthroughs and the search for more therapies. Wear Green !
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