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Lysosomal acid lipase deficiency

Lysosomal acid lipase (LAL) deficiency is a variable condition that affects the body's ability to properly break down and use fats and cholesterol. How serious symptoms are and at what age they start varies from person to person.

There are different forms of LAL. The most serious form (Wolman disease) can cause organ failure and sadly, death in early childhood. Cholesterol ester storage disease (CESD) is a milder form of LAL deficiency, with symptoms usually starting in early childhood to late adulthood. Individuals with this form of the condition have harmful amounts of fats (lipids) building up in the cells and tissues throughout their body, which can cause liver disease and can lead to liver failure. It can also cause gastrointestinal problems and cardiovascular disease.

Quick facts about lysosomal acid lipase deficiency
Genes: LIPA
Inheritance: Autosomal Recessive
Alternative Names: lysosomal acid lipase deficiency (includes Wolman disease and cholesterol ester storage disease)
Relevant resources for lysosomal acid lipase 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 lysosomal acid lipase deficiency inherited?

lysosomal acid lipase 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 condition.

If both parents are carriers of lysosomal acid lipase deficiency, there's a one in four chance that their children could develop symptoms.

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 condition in your child. Eugene offers an inclusive genetic carrier screening panel that includes lysosomal acid lipase 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 lysosomal acid lipase deficiency before or early in pregnancy?

The biggest benefit of screening for lysosomal acid lipase 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 condition is low.

Since 90% of children that have a recessive genetic condition like lysosomal acid lipase 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 condition in the first place.