What is fucosidosis?
Fucosidosis is a disorder characterized by the deterioration of mental and physical skills over time. Many parts of the body are affected, particularly the brain. Severe cases present themselves during infancy, and affected individuals live into late childhood. Mild cases see the onset of symptoms at age one or two, and people live into mid-adulthood.
Fucosidosis is a very rare condition. About 100 cases have been reported throughout the world, and it is most common in Italy, Cuba, and the Southwestern portion of the United States.
What are the symptoms of fucosidosis?
A major symptom of this disorder is intellectual disability that progresses with age. People often develop dementia later in life. If motor skills do develop, they are delayed and will be lost over time.
Other symptoms of this disorder include:
- Abnormal bone development
- Impaired growth
- Abnormal muscle stiffness
- Clusters of enlarged blood vessels
- Coarse facial features
- Recurrent respiratory infections
- Abnormally large organs
What causes fucosidosis?
Fucosidosis is caused by a mutation in the FUCA1 gene, which provides the instructions for the enzyme alpha-L-fucosidase. This enzyme is necessary in breaking down complex molecules. Without it, these molecules accumulate in tissue and cells, causing cell malfunctions. Brain cells are susceptible to this malfunction, and their death causes the neurological symptoms of fucosidosis. Additional symptoms are caused by the accumulation of these molecules in other organs.
This disorder is passed down in an autosomal recessive pattern. Children must receive a mutated form of the gene from both parents in order to have fucosidosis.
How is fucosidosis diagnosed?
A diagnosis is found through a clinical evaluation, patient history, and a variety of special tests. Advanced imaging tests and an electron microscopic examination of tissue samples are examples.
Fucosidosis can be diagnosed before birth through chorionic villus sampling (CVS) or amniocentesis.
What are the treatments for fucosidosis?
Treatment for this disorder is symptomatic. Antibiotics are used to treat any infections that arise. Fluid replacements can help with symptoms like excessive sweating. It is recommended that a team of specialists is put together for the best treatment options.