Fucosidosis
Fucosidosis is a rare, progressive lysosomal storage disorder that affects multiple body systems, particularly the brain, leading to a decline in cognitive and physical skills.
Overview
Fucosidosis is a condition that affects many areas of the body. Affected individuals experience intellectual disabilities that worsen with age, often losing previously learned skills such as walking or talking. The condition is considered a spectrum of severity rather than distinct types.
Symptoms
Signs and symptoms may include:
- Slow growth and abnormal bone development (dysostosis multiplex)
- Rigid or stiff muscles (spasticity)
- Clusters of enlarged blood vessels on the skin (angiokeratomas)
- Distinctive "coarse" facial features
- Frequent respiratory infections
- Enlarged liver and spleen (hepatosplenomegaly)
- Seizures
Causes & Risk Factors
Fucosidosis is caused by variants in the FUCA1 gene, which provides instructions for making the enzyme alpha-L-fucosidase. This enzyme is responsible for breaking down sugar molecules (oligosaccharides) attached to fats and proteins. When this enzyme activity is reduced or eliminated, these compounds accumulate within cells, particularly in the brain, liver, spleen, and skin.
Because the buildup occurs within lysosomes (the cell's recycling compartments), fucosidosis is classified as a lysosomal storage disorder.
Inheritance
Fucosidosis is inherited in an autosomal recessive pattern. This means both copies of the FUCA1 gene in each cell must have a variant to cause the disorder. Parents of an affected individual each carry one copy of the altered gene but typically do not exhibit symptoms of the condition.