Ethylmalonic encephalopathy

Ethylmalonic encephalopathy is a condition that primarily affects the brain and nervous system but can also affect the gastrointestinal tract and blood vessels. Symptoms typically present within the first few months of life and include low muscle tone, delayed development, a small head, chronic diarrhea, bleeding under the skin, difficulty coordinating movements and progressive loss of mental and movement abilities.

Children who are affected by Ethylmalonic encephalopathy are often unable to walk without support and may require a wheelchair. Early initiation of treatment may delay onset and reduce the severity of symptoms; however, affected children typically do not survive beyond the first few years of life.

Quick facts about Ethylmalonic encephalopathy
Genes: ETHE1
Relevant resources for Ethylmalonic encephalopathy

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 Ethylmalonic encephalopathy inherited?

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 Ethylmalonic encephalopathy, 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 Ethylmalonic encephalopathy before or early in pregnancy?

The biggest benefit of screening for Ethylmalonic encephalopathy 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.

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