A type of lysosomal storage disease that is caused by a deficiency of functional aspartylglucosaminidase resulting in the accumulation of complex sugars in cells, and thereby leads to progressive damage to affected tissues and organs
Lysosomal storage disease is a collective term for the various metabolic disorders due to defects in lysosomal function resulting in an abnormal accumulation of toxic materials in the cell. One of them is the aspartylglucosaminuria. This disease is associated with pathological mutation in the AGA gene. This gene codes for the enzyme aspartylglucosaminidase. This enzyme is essential in helping the breaking down of oligosaccharides, especially those that are attached to glycoproteins. Without an adequate level of functional aspartylglucosaminidase, there would be a buildup of complex sugars within the cells. This buildup could disrupt cellular functions and leads to apoptosis. As a result, the affected tissues and organs are permanently damaged.
The condition is inherited in an autosomal recessive pattern. This means that the individual has two copies of the defective gene and therefore manifests symptoms associated with the disease. A carrier of the disease would have only one copy of the defective gene and therefore may not show symptoms.