Homocystinuria due to MTHFR deficiency

Homocystinuria is a disorder that prevents the body from being able to properly process certain building blocks of proteins (amino acids). The condition can vary in age of onset and severity. Symptoms usually appear during the first year of life, however sometimes people do not present until childhood or adulthood. People sometimes have problems related to brain function - sypmtoms can include a swelling of the brain, seizures, developmental delay, and intellectual disability. Other symptoms may include pain and reduced sensation due to nerve damage, difficulty coordinating movements, psychiatric problems, and an increased risk for abnormal blood clots that break loose and block a blood vessel (thromboembolism). Starting treatment early can improve outcomes. More severe cases typically have poorer outcomes.

Quick facts about homocystinuria due to MTHFR deficiency
Genes: MTHFR
Relevant resources for homocystinuria due to MTHFR 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 homocystinuria due to MTHFR deficiency 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 homocystinuria due to MTHFR 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 homocystinuria due to MTHFR deficiency before or early in pregnancy?

The biggest benefit of screening for homocystinuria due to MTHFR 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.

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