Why It Is Difficult to Quickly Diagnose Congenital Disorders of Glycosylation скачать в хорошем качестве

Why It Is Difficult to Quickly Diagnose Congenital Disorders of Glycosylation

Eva Morava-Kozicz, MD, PhD of the Mayo Clinic in Rochester, MN profiles an overview of congenital disorders of glycosylation (CDG). CDG are rare, genetic disorders that impact glycosylation, a natural process in which sugar molecules are attached to proteins (glycoproteins) or lipids (glycolipids) that are involved in numerous functions throughout the body. Disruption of that process can have multiple and variable symptoms, including neurological symptoms, growth problems, organ issues, endocrine abnormalities, skeletal and joint problems,, hematologic concerns, and many other problems. Early symptoms can be noticeable at birth or in the first few months of life but it usually takes several months before they are often diagnosed. As noted by Dr. Morava-Kozicz, some of the early symptoms are inverted nipple, hypotonia, abnormal fat distribution, developmental delays, for the more common CGD may quicken a diagnosis. At the Mayo Clinic, they now order full exome sequencing in newborn babies who are sick in the nursery or are born prematurely to alleviate diagnostic delays. Dr. Morava-Kozicz is part of the Frontiers in Congenital Disorders of Glycosylation Consortium(FDCGC). The FCDGC is part of the Rare Diseases Clinical Research Network (RDCRN), which is funded by the National Institutes of Health (NIH) and led by the National Center for Advancing Translational Sciences (NCATS) through its Division of Rare Diseases Research Innovation (DRDRI).