Aspartylglucosaminuria (AGU)

is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis), that is only exceptionally found outside of Finland. It is due to deficiency in N-aspartylglycosaminidase, an enzyme that cleaves N-acetylglycosamine-asparagine bond found into many glycopeptides and N-glycosyled proteins, and causes excess accumulation of glycoasparagine in the body tissues and its increased excretion in urine. Transmission is autosomal recessive. Clinical signs include slowly developping mental retardation, beginning with clumsiness, late speech, and hyperkinesia, mild facial dysmorphism, and slight kyphoscoliosis. (Source: Orphanet)

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