Aspartylglucosaminuria
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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