Aspartylglucosaminuria (AGU) is a rare, fatal, childhood metabolic disorder where body lacks aspartylglucosamidase (AGA), one of lysosomal enzymes. The enzyme is required to break down some sugars, which start to accumulate in the body. It was first described in 1968 in England.

AGU’s initial symptoms are language delay and clumsiness, which appear between two and five years of age. As the disorder progresses, language skills are affected the most and a child might be diagnosed with autism spectrum disorder (PDD-NOS or Asperger Syndrome). Children usually continue developing until their early twenties, but the learning occurs at a slower rate. An AGU child’s life expectancy usually averages between 25 and 35 years of age, with young adults typically dying from infection. There is currently no approved treatment for AGU.

Rare Trait Hope Fund is a 501(c)(3) non-profit organization whose main mission is to facilitate the development a cure and raise funds for a treatment of Aspartylglucosaminuria (AGU). The organization also works to increase awareness and screening for this misdiagnosed disease, and to be a resource for families, doctors, and scientists world-wide.

Donate now and help us  raise funds towards the continued development of the gene therapy and development a therapeutic drugs. 

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Together, we can make the treatment for AGU a reality. Thank you for your support!