Fucosidosis Type II, also known as Fucosidosis, is a rare genetic disorder that belongs to the group of lysosomal storage diseases. This condition is caused by a deficiency in the enzyme alpha-L-fucosidase, which is responsible for breaking down complex molecules called fucosylated glycoproteins. These glycoproteins are found in various tissues and organs of the body.
Individuals affected by Fucosidosis Type II experience a buildup of undigested fucose-containing substances within their cells, particularly in the lysosomes, which are responsible for breaking down waste materials. This accumulation disrupts normal cellular function, leading to the progressive deterioration of different body systems.
Signs and symptoms of Fucosidosis Type II typically appear during early childhood or infancy. These may include developmental delays, impaired growth, skeletal abnormalities, intellectual disability, organ dysfunction, and a range of neurological symptoms such as seizures, muscle weakness, and coordination difficulties. Other features observed in affected individuals may include facial dysmorphisms, coarse hair, and abnormalities of the bones and connective tissues.
Fucosidosis Type II is inherited in an autosomal recessive manner, meaning that two copies of the mutated gene are required for an individual to develop the condition. There is no known cure for this disorder, and treatment primarily focuses on managing symptoms and providing supportive care to individuals affected by Fucosidosis Type II. Genetic counseling may be recommended for affected individuals and their families to understand the risks of passing on the condition to future generations.
