Aspartylglycosaminuria is an autosomal recessive disorder that is caused by pathogenic variants in the gene AGA. It is a pan-ethnic disease with high prevalence among individuals of Finnish descent. Symptoms become apparent within the first few years of life and include frequent diarrhea and infections, clumsiness, delayed speech, and hyperactivity. Over time, individuals will experience progressive intellectual disability, seizures, behavioral problems, and impaired motor function. Physically, individuals with aspartylglycosaminuria also have coarse facial features and spine and eye deformities. Due to the progressiveness of the disease, the life expectancy is estimated to be 30-40 years of age.
For information about carrier frequency and residual risk, please see the residual risk table.