Discover helpful resources and support for aspartylglucosaminuria (AGU) to guide you along your journey

Discover helpful resources and support for aspartylglucosaminuria (AGU) to guide you along your journey

Aspartylglucosaminuria (AGU) is a rare, neurodegenerative disease that ultimately leads to profound intellectual disability and a shortened lifespan. While AGU can result in different problems in different children, the hallmark symptom that is universal is developmental delay. This means all children by the age of 2 years may have delayed speech and delayed developmental milestones such as walking, which parents often interpret as clumsiness. Many infants and young children with AGU suffer from frequent respiratory infections (such as ear infections requiring multiple ear tube placements) that a doctor may not suspect could be due to a neurological disease.

As children with AGU get older, they develop new skills more slowly than their peers do. In some cases, they develop significant behavioral challenges and sleep issues. Additional signs and symptoms of the disease typically develop and progress over time, and erode a person’s ability to speak, move normally, and interact with the world around them. Some people with AGU develop seizures, but not all. Since AGU is so rare and presents with signs and symptoms that are easily confused with other more common neurological diseases, most people with AGU are either diagnosed years after the first symptoms appear, are misdiagnosed, or are never diagnosed.

See below to learn more about AGU, read stories about people living with AGU, and learn how you or a loved one may be able to enroll in an AGU natural history study.

Source: Arvio, M., Autio, S. & Louhiala, P. (1993). Early symptoms and incidence of aspartylglucosaminuria in Finland. Acta paediatrica (Oslo, Norway : 1992). 82. 587-9. Retrieved June 5, 2019 from link.