More symptom information
Learn more about specific symptoms of this leukodystrophy in these pages.
Also known as: Fatty acid alcohol oxidoreductase deficiency
Sjogren-Larsson syndrome is a rare genetic disorder caused by mutations in the ALDH3A2 gene causing a disruption in fatty acid oxidation which leads to a build-up of fats in cells. Water barriers are disrupted, causing water loss resulting in dry and scaly skin. Myelin formation is also disrupted leading to neurological symptoms, intellectual disabilities, and seizures. Other symptoms include spasticity which impairs motor abilities and walking, and the eyes can be affected by retinal degeneration or glistening white dots. Treatment options vary based on the form and stage of the disease, and management focuses on addressing symptoms and supporting the patient’s well-being.
A new diagnosis can be overwhelming as it brings unique challenges and adjustments, but it is important to remember that you are not alone.
Sjogren-Larsson syndrome is caused by mutations in the ALDH3A2 gene, which creates an enzyme called FALDH, involved in a process called fatty acid oxidation.
When this fatty acid oxidation is disrupted by mutations, fats cannot be broken down and build up in cells. These interfere with water barriers, causing water loss which makes the skin dry and scaly. In the brain, these fats seem to disrupt the formation of myelin (white matter) and the ability of nerves to send signals around the body. The cause of eye problems is not clear, but is expected to also be related to this build up of fats.
Autosomal recessive: In autosomal recessive conditions, two copies of the genetic mutation are needed to cause the condition. We all have two copies of every gene, one from our mother and one from our father. The parents of someone with an autosomal recessive condition both carry one copy of the gene with a genetic mutation. Therefore, someone with an autosomal recessive condition has two copies of the genetic mutation, one copy from each parent. Each child of parents that both carry the genetic mutation will have a 25% chance of having the condition, a 50% chance of carrying the genetic mutation (like the parent), and a 25% chance of not having the condition.
Genetic counselling is essential for affected families due to the inheritance pattern of the condition. This is available at hospitals and Regional Genetic Centres. Please contact your doctor if you have any questions.
Learn more about genetic testing and counselling here.
Those with Sjogren-Larsson syndrome tend to be born prematurely, with symptoms presenting in early childhood which do not typically worsen with age. They may experience erythema at birth, this will later develop into ichthyosis; skin will become rough and brownish or yellowish in tone, commonly with mild to severe itchiness. This affects the skin all over the body, although typically not the face.
Neurological symptoms are also common, including intellectual disability from early childhood, as well as dysarthria and delayed speech. Seizures occur in almost half of those with this condition. Spasticity in the legs (and sometimes also in the arms) delays motor skills such as the ability to walk. The eyes of those with Sjogren-Larsson syndrome are also affected; some may have nearsightedness and others may experience photophobia. Glistening white dots can be observed by eye examination, but it is unclear if these affect vision.
Learn more about specific symptoms of this leukodystrophy in these pages.
Although there is currently no specific treatment for this leukodystrophy, there is condition management information that may be useful for you in managing your or your loved one’s leukodystrophy.
There may be a current clinical trial, natural history study or patient registry for your condition. Check our current research page and ask your specialist doctor for more information.
We understand that research is a significant priority and source of hope for the leukodystrophy community. There is more research in leukodystrophy now than ever before. Alex TLC actively promotes and supports research in a number of ways.
Every month we update our database of research summaries with the most recent research. This includes summaries of leukodystrophy articles, clinical trials and pharmaceutical press releases. Our summaries allow our community to read about relevant recent research developments in a format that is easily understood.
Learn about the ways in which we can help in the how we support you section. When you or a family member been diagnosed with a leukodystrophy it may be difficult to know where to go for more advice – this information could help.
Our services and equipment section is here to help leukodystrophy patients and their families manage their condition. All information is based on our knowledge of UK services, however, our team are happy to receive support requests from other countries – email us.
You may be introduced to many different medical professionals which you may find confusing. View our guide to the health and care professionals you may encounter, with short descriptions about what they do.
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