Acatalasemia, What you need to know

Acatalasemia, What you need to know

How is it diagnosed?

A diagnosis usually starts with a full medical history, investigation of symptoms and a physical examination. Molecular genetic testing can confirm the diagnosis by showing mutations (changes) in the CAT gene.  

Can it be treated?

There is currently no cure for Acatalasemia. With the main symptoms being related to oral ulcers and gangrene, periodontal (gum disease) treatments are used to reduce tissue damage and improve oral hygiene.

Do my family need to be tested?

Acatalasemia is an inherited condition. Humans have chromosomes made up of DNA. Genes are pieces of DNA that carry the genetic information. Each chromosome may have several thousand genes. We inherit chromosomes from the egg of the mother and sperm of the father. The genes on those chromosomes carry the instructions that determine a person’s characteristics, which are a combination of the parents.  

 The pattern of inheritance of Acatalasemia is autosomal recessive. This means that carriers of the condition do not have the disorder because the other gene of this pair is working normally. Parents of children with Acatalasemia are carriers.   

 When both parents are carriers, the risk to the baby in each pregnancy is  

  •  25% chance (1 in 4) of developing the condition  
  •  50% chance (1 in 2) for the baby to be a carrier of the condition  
  •  25% chance (1 in 4) for the baby to have two working genes and neither have the condition nor be a carrier  

 Genetic counselling can be requested to get a full explanation.  

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