Aspartylglucosaminuria (AGU) is a rare, neurodegenerative lysosomal storage disorder (LSD). AGU primarily affects the brain and spinal cord. Early symptoms of AGU usually appear by the age of 12 to 15 months and include developmental delay, specifically lack of speech and clumsy walking, and chronic ear infections. New signs and symptoms of the disorder develop and progress over time.
LSDs are a group of inherited metabolic diseases caused by genetic mutations. Each mutation causes a deficiency or absence of a critical enzyme. The lack of enzyme leads to the build-up of toxic chemicals that affect many organs in the body. AGU is caused by a variant in the AGA gene that causes deficient activity in the aspartylglucosaminidase (AGA) enzyme.
AGU affects both males and females as well as people of all ethnic groups. There are about 200 to 300 known AGU patients worldwide. People with AGU have been diagnosed in Finland, the United States, Japan, Italy, Canada, and other Nordic countries.
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