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Aspartylglucosaminuria was first described in 1968, and is caused by deficiency of N-aspartyl-beta-glucosaminidase. It is found most prevalently in the Finnish population where it is estimated to affect 130 out of the total population of 4.5 million. Incidence outside of Finland is estimated at one in 2,111,000 births. Symptoms develop by two to six years of age and include recurrent infection and diarrhea in infancy, progressive mental retardation, seizures, sagging cheeks, broad nose and face, short neck, cranial asymmetry, scoliosis, periodic hyperactivity, and vacuolated lymphocytes. |