Mitochondrial complex I deficiency/Leigh syndrome (NDUFAF5-related)

Mitochondrial complex I deficiency/Leigh syndrome (NDUFAF5-related) is a variable condition that affects the function of mitochondria - the structures that produce energy for our cells. As a result, problems arise in several parts of the body due to low levels of cellular energy.

Symptoms usually begin in the first few years of life and can include low muscle tone, difficulties swallowing, vomiting, seizures, development delay and regression of development milestones. Some individuals may also have high blood pressure and eye issues including droopy eyelid, involuntary eye movements (nystagmus), and vision problems due to deterioration of the eye nerves.

People with Mitochondrial complex I deficiency/Leigh syndrome (NDUFAF5-related) often have a limited life span. The management of this condition is determined by the symptoms the individual experiences.

Quick facts about Mitochondrial complex I deficiency/Leigh syndrome (NDUFAF5-related)
Genes: NDUFAF5

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 Mitochondrial complex I deficiency/Leigh syndrome (NDUFAF5-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 Mitochondrial complex I deficiency/Leigh syndrome (NDUFAF5-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 Mitochondrial complex I deficiency/Leigh syndrome (NDUFAF5-related) before or early in pregnancy?

The biggest benefit of screening for Mitochondrial complex I deficiency/Leigh syndrome (NDUFAF5-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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