CDG1A

Also known as

Congenital disorders of glycosylation ()CDGs are a group of inherited metabolic conditions caused by deficiencies of different enzymes that are needed to make oligosaccharides (sugars linked together in a specific pattern) that are attached to proteins and lipids. This chemical process takes place in every living human cell and is needed for the normal function of tissues and organs.

Condition details

CDG-1a or PMM2-CDG is the most common type reported, accounting for about 70% of all CDG syndromes The clinical presentation and course of the condition are extremely variable. The condition can be very severe (life threatening) or mild. It is therefore probably under-diagnosed. It most commonly presents in infancy but can also be diagnosed in adolescents and adults. It has been estimated that about 20% die in the first few years of life, particularly those who present with the more severe form. Those who survive can live into adulthood. As the condition is so variable an can be under-diagnosed I think it is very difficult to estimate average survival (as well as incidence).

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Photos of affected individuals

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  • No baby imageBaby
  • No toddler imageToddler
  • No child 4-10 imageChild 4-10
  • No child 10-18 imageChild 10-18
  • No adult imageAdult

Typical age range of first manifestation

  • Does not manifest in Baby
  • Does not manifest in Toddler
  • Does not manifest in Child 4-10
  • Does not manifest in Child 10-18
  • Does not manifest in Adult

Symptoms

Affected genes identified to date

  • PMM2

Inheritance patterns

Is Autosomal recessive

Are carriers affected?

How many are affected?

1 in 20,000

Support groups and organisations

Climb
Tel 0800 652 3181
Facebook

Known experts

No experts found

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