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Mucopolysaccharidosis type IIIA (Sanfilippo A syndrome)

Mucopolysaccharidosis type IIIA (MPS IIIA), also called Sanfilippo syndrome, is a disorder affecting lysosomes, which are structures in the cell that break down and recycle other molecules.

There are multiple types of MPS III caused by changes in different genes. MPS IIIA is caused by changes in the SGSH gene. Children with MPS IIIA typically develop brain and spinal cord (central nervous system) symptoms in early childhood. Symptoms include delayed speech, behavioral problems, sleep disturbances, progressive intellectual disability, loss of previously acquired skills, mildly coarse facial features, and a large head. Children affected by MPS III may also develop seizures, problems with movement, or hearing and vision problems. Sadly, people with MPS III have a shortened life expectancy. Treatment is focused on managing the individual's symptoms.

Quick facts about mucopolysaccharidosis type IIIA (Sanfilippo A syndrome)
Genes: SGSH
Inheritance: Autosomal Recessive
Relevant resources for mucopolysaccharidosis type IIIA (Sanfilippo A syndrome)

A quick genetics rundown

As humans we have about 23,000 genes. These genes are like tiny instruction manuals that influence our health, growth and development. We inherit half of our genes from our biological mum and the other half from our biological dad. These genes are lined up on structures called chromosomes. Most of us have 23 pairs of chromosomes. The first 22 pairs are called autosomes and for the most part - these are the same among men and women. The 23rd pair determine our sex - two X chromosomes for a female and one X and one Y chromosome for males.

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How is mucopolysaccharidosis type IIIA (Sanfilippo A syndrome) inherited?

mucopolysaccharidosis type IIIA (Sanfilippo A syndrome) is known as an autosomal recessive condition. For autosomal recessive conditions, if a person has a variation in one copy of their gene, they are a carrier. This means that they are healthy because they also have a working copy of the gene. But, they can still pass their non-working copy to their child.

If the other parent also happens to be a carrier of the same gene, there is a 25% (1 in 4) chance that they both pass this gene variation on to their child — and as such, have a child affected by the disease.

If both parents are carriers of mucopolysaccharidosis type IIIA (Sanfilippo A syndrome), there's a one in four chance that their children could develop symptoms.

What is carrier screening?

Carrier testing is like a checkup for your genes. It tests to see if you carry a gene variation that could cause a serious genetic disease in your child. Eugene offers an inclusive genetic carrier screening panel that includes mucopolysaccharidosis type IIIA (Sanfilippo A syndrome), but there's a total 301 conditions that can be tested.

Eugene's carrier test is a clinical grade test that can be done from the comfort of your own home — it's just a saliva test. You're also paired with a genetic counsellor who provides mindful support and guidance every step of the way.

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Should parents screen for mucopolysaccharidosis type IIIA (Sanfilippo A syndrome) before or early in pregnancy?

The biggest benefit of screening for mucopolysaccharidosis type IIIA (Sanfilippo A syndrome) is that it can help future parents understand their reproductive risk so they can be ready and empowered to make more informed decisions. If neither partner are carriers, it provides reassurance and peace of mind that the risk of having a child with a genetic disease is low.

Since 90% of children that have a recessive genetic disease like mucopolysaccharidosis type IIIA (Sanfilippo A syndrome) had no previous family history of it, it often feels completely out of the blue for the parents. Getting screened is a way to know this risk in advance, which can help familes manage or even prevent the disease in the first place.