| About CDG |
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Congenital disorders of Glycosylation (CDG) is a group of rare disorders. Most people have never heard of CDG and it can be difficult to understand. As with most genetic disorders, the easiest place to start is with DNA. Human DNA, present in every cell of the body, contains the 'instruction book' for how to make the human body. These instructions are called 'genes', and it takes about 23,000 genes to make a human. The instructions contained in genes are used to create 'proteins'. The human body is literally built from millions of proteins. Proteins combine in different ways to make all the different parts of our bodies, such as muscles, bones, heart, skin and brain. Proteins are highly complex, yet by themselves proteins are still not complex enough to perform some of the functions of the human body. In order to perform these tasks, proteins need to be modified by the attachment of sugar molecules. The modified proteins are called 'glycoproteins' and the process of attaching sugar to proteins is called 'glycosylation'. CDG occurs when the one of the many steps involved in glycolyation goes wrong. There are many types of glycosylation error, and so there are many different types of CDG. There is also great variability in the severity of CDG. Glycoproteins perform important functions in virtually all parts of the body. This means that CDG can affect any part of the body. The brain is the most complex part of the human body and so the brain is the most common organ affected by CDG. CDG can also affect the liver, intestines, heart, bones, eyes, kidneys and immune system. Around the world, hundreds of children (and some adults) have been diagnosed with CDG, but it is expected that there are many thousands more who have CDG but have never been diagnosed. Doctors and CDG families are currently working to raise awareness of CDG. There is currently no specific treatment for CDG and certainly no cure. This means that once a diagnosis has been made, current treatment is to focus on managing the individual symptoms of CDG as they arise. (This information was kindly given to us by Dr David Amor, Clinical Geneticist, Genetic Health Services, Victoria) Click her to view the CDG Family Network website. |