Alpha fucosidase deficiency disease, also known as fucosidosis, is a rare autosomal recessive lysosomal storage disorder characterized by the deficiency or absence of the enzyme alpha-L-fucosidase. This enzyme is responsible for breaking down complex molecules known as fucose-containing glycoproteins and glycolipids within the lysosomes, cellular compartments involved in intracellular digestion.
Due to the lack or reduced activity of the alpha-L-fucosidase enzyme, these fucose-containing molecules accumulate in the lysosomes, leading to the progressive dysfunction and degeneration of multiple organs and tissues throughout the body. Fucosidosis primarily affects the central nervous system, skeletal system, connective tissues, liver, spleen, and heart.
This disease presents a wide range of symptoms, including intellectual disability, developmental delay, muscle weakness, abnormal bone development, joint stiffness, coarsening of facial features, swollen abdomen, enlarged liver and spleen, heart valve abnormalities, and seizures. The severity and rate of disease progression can vary significantly between affected individuals.
Alpha fucosidase deficiency disease is inherited in an autosomal recessive manner, meaning that affected individuals inherit two copies of the mutated gene, one from each parent. Genetic testing can help in confirming the diagnosis of fucosidosis, and enzyme activity assays can assess the levels of alpha-L-fucosidase.
Unfortunately, there is currently no cure for alpha fucosidase deficiency disease. Treatment mainly focuses on managing the symptoms and complications associated with the condition, including physical and occupational therapy, medications for symptom management, and supportive care.
