alphaLfucosidase

Alpha-L-fucosidase is an enzyme that belongs to the glycoside hydrolase family. Its primary function is to catalyze the hydrolysis of alpha-L-fucosyl linkages in various carbohydrate structures. This includes oligosaccharides, glycoproteins, and glycolipids found in biological systems. The enzyme plays a crucial role in the catabolism of fucose-containing glycans, effectively breaking them down into simpler components.

Deficiency in alpha-L-fucosidase activity is associated with a rare genetic disorder known as fucosidosis. This lysosomal storage disease is characterized by the accumulation of fucose-rich oligosaccharides and glycopeptides within cells, particularly in the nervous system, liver, and spleen. Symptoms of fucosidosis can vary in severity but often include progressive neurological deterioration, coarse facial features, skeletal abnormalities, and increased susceptibility to infections.

Alpha-L-fucosidase is encoded by the FUCA1 gene. Mutations in this gene can lead to reduced or absent enzyme function. Diagnosis of fucosidosis typically involves measuring alpha-L-fucosidase activity in leukocytes or fibroblasts and identifying causative mutations in the FUCA1 gene. While there is no cure for fucosidosis, management focuses on supportive care and symptom management. Research into enzyme replacement therapy and gene therapy is ongoing.