| aspartylglycosaminuria |
an autosomal recessive lysosomal storage disease caused by deficiency of aspartylglucosaminidase. The disorder is preceded by diarrhea and frequent infections in infancy, with later onset of severe mental retardation, coarsening of features, lens opacity, and skeletal dysplasia, as well as storage and urinary excretion of abnormal levels of aspartylglucosamine and related glycopeptides. Called also aspartylglucosaminuria.
출처: www.mercksource.com/pp/us/cns/cns_health_library.j...
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