Carbamoylphosphate synthetase I deficiency

Carbamoylphosphate synthetase I (CPS1) deficiency causes ammonia to build up in the bloodstream. Too much ammonia can be toxic and is particularly damaging to the nervous system and brain. In serious cases, babies present with unusual sleepiness, poorly regulated breathing rate or body temperature, unwillingness to feed, vomiting after feeding, unusual body movements, seizures or coma. This usually happens within the first few days of life. Children who survive infancy may experience recurrence of these symptoms if their diet is not carefully managed, if they experience infections or other stressors. There is also a milder form of CPS1, which has less serious symptoms that may appear later in life.

Early initiation of treatment and a proper diet may delay onset and reduce the seriousness of symptoms.

Quick facts about Carbamoylphosphate synthetase I deficiency
Genes: CPS1
Inheritance: Autosomal Recessive
Alternative Names: CPS1
Relevant resources for Carbamoylphosphate synthetase I deficiency

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 Carbamoylphosphate synthetase I deficiency inherited?

Carbamoylphosphate synthetase I deficiency 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 Carbamoylphosphate synthetase I deficiency, there’s a one in four chance that their children could develop symptoms.
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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 Carbamoylphosphate synthetase I deficiency, 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 Carbamoylphosphate synthetase I deficiency before or early in pregnancy?

The biggest benefit of screening for Carbamoylphosphate synthetase I deficiency 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 Carbamoylphosphate synthetase I deficiency 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.

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