Methylmalonic acidemia (MMAB-related)

Methylmalonic acidemia (MMA) is a condition which affects the body's ability to process lipids (fatty acids). Children affected with MMA may experience symptoms starting in their infancy, including vomiting, weak muscle tone, a delay in development, extreme tiredness, large liver and failure to grow and gain weight normally. In very serious cases, the prognosis is poor, however treatment early in life and a proper diet may be able to delay the onset of symptoms and improve quality of life.

Quick facts about Methylmalonic acidemia (MMAB-related)
Genes: MMAB
Relevant resources for Methylmalonic acidemia (MMAB-related)

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 Methylmalonic acidemia (MMAB-related) 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 Methylmalonic acidemia (MMAB-related), 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 Methylmalonic acidemia (MMAB-related) before or early in pregnancy?

The biggest benefit of screening for Methylmalonic acidemia (MMAB-related) 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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