Aspartylglucosaminuria

Very rare, more frequent in Finland. Disease of lysosomal overload of the group of oligosaccharidoses (or glycoproteinoses). Autosomal recessive transmission of a mutation at locus 14q32-q33 for N-aspartylglucosaminidase (cleaving the liaison with  N-acetylglucosamine-asparagine of many glycopeptides and N-glycosylated proteins). This results in excessive tissue gluco-asparagins, and their massive urinary excretion. Slowly progressive mental retardation with speech delay and hyperkinesia, mildface dysmorphism, moderate kyphoscoliosis,  hepatosplenomegaly.


Anesthetic implications:

kyphoscoliosis can render a neuraxial block technically difficult; check liver function


Updated: November 2019