aspartylglucosaminidase

Aspartylglucosaminuria (AGU) is a rare, autosomal recessive lysosomal storage disease that affects the body's ability to break down certain proteins and sugars. It is caused by a deficiency in the enzyme N-acetylglucosamine-6-sulfatase, which is involved in the breakdown of glycoproteins. This deficiency leads to the accumulation of undigested glycoproteins, particularly aspartylglucosamine, in various tissues and organs.

The clinical manifestations of AGU are progressive and typically become apparent in early childhood. Symptoms can include intellectual disability, developmental delay, coarse facial features, skeletal abnormalities, and a weakened immune system. Individuals with AGU may also experience hearing and vision loss, as well as neurological problems such as seizures. The severity of symptoms can vary among affected individuals.

Diagnosis of AGU is usually made through biochemical testing that measures enzyme activity and identifies the accumulation of specific substances in urine and blood. Genetic testing can confirm the diagnosis by identifying mutations in the gene responsible for producing N-acetylglucosamine-6-sulfatase.

Currently, there is no cure for AGU. Treatment focuses on managing symptoms and improving the quality of life for affected individuals. This may involve supportive therapies such as physical therapy, occupational therapy, speech therapy, and educational support. Medical management of specific complications, such as seizures or infections, is also important. Research is ongoing to explore potential therapeutic strategies, including enzyme replacement therapy and gene therapy, but these are not yet widely available.