More symptom information
Learn more about specific symptoms of this leukodystrophy in these pages.
Also known as: Alpha-L-fucosidase deficiency
Fucosidosis is a rare lysosomal storage disorder caused by a mutation of the FUCA1 gene leading to the deficiency of the enzyme alpha-L-fucosidase. This leads to the accumulation of fucose-containing molecules in various tissues and organs, causing progressive neurological and physical deterioration. Symptoms include intellectual disability, developmental regression, motor impairments, seizures, and skeletal abnormalities. 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.
The FUCA1 gene, responsible for making the alpha-L-fucosidase enzyme, is mutated in Fucosidosis. When this gene is mutated, the enzyme cannot break down sugars, which accumulate and cause cells to malfunction and die.
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.
A progressive condition primarily affecting the brain, those with Fucosidosis have worsening intellectual disability and typically develop dementia later in life. The most severe cases begin in infancy and result in death in late childhood. Milder cases see symptoms develop between the ages of 1 and 2 – these individuals may live until mid-adulthood.
Development of motor skills including the ability to walk is slow and any skills learned will deteriorate over time. Growth is impaired, while seizures, spasticity and respiratory infections are common. Distinctively coarse facial features can be recognised, including thickened lips and tongue, a broad nose with flattened bridge, a protruding forehead and large, low set ears. Bone development is abnormal and angiokeratomas are common. Those with Fucosidosis may have visceromegaly.
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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