Congenital Disorder of Glycosolation (CDG)
What is CDG?
Congenital Disorder of Glycosolation (CDG) is the name given to a group of conditions that are caused by an inability to appropriately synthesis sugars into proteins or lipids. Due to this, there is a significant variety in symptoms and the severity of those symptoms in patients. For majority of people, like Louis, the condition is due to an autosomal recessive genetic mutation that has been passed on by both parents. This means that both parents are carriers of the mutation (however are unaffected by the condition itself).
There are now over 160 different types of CDG. Unfortunately, many of them do not have a cure or specific treatment and are symptom managed.
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CDG Care
CDG Care is a not-for-profit organisation that has been created by parents of children with CDG. Amy, Louis’ mum, is proudly a board of director and the only current international board member.
CDG Care work on raising awareness, supporting families and assisting in research funding opportunities where they can.
CDG Care have continued to provide us personally with support throughout our time in the CDG family. Our way of helping this amazing organisation is to raise funds for them, something we are very passionate about.
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Louis' type ALG1-CDG
Louis has the type ALG1-CDG (CDG 1K). This is a rare form, with approx 60 people in the world identified with it. His specific symptoms, that are seen in many with CDG 1K are hard-to-control seizures, visual impairment, global developmental delay, and intellectual disability.
This information is provided by Orphanet
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Symptoms
For many people with CDG, there is a wide variety of symptoms. These can include neurological involvement with the presence of seizures and intellectual disability, low muscle tone, endocrine issues, renal and liver dysfunction, gastrointestinal issues and many other symptom. CDG can be life-limiting, is chronic and unfortunately can be fatal.
For more information, click the link below to go to CDG Care’s website.
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World CDG Organisation
At the forefront of all CDG information is the World CDG Organisation. This group have been developed as a central source for CDG related information, resources, research and events. They are responsible for ensuring that accurate and up-to-date information is disseminated to families and clinicians about CDG. To learn more, click the link below.