| aspartylglycosaminuria | One of the disorders of glycoprotein catabolism resulting from the absence of aspartylglycosamine amidohydrolase, characterised by aspartylglycosamine in the urine and spinal fluid. Symptoms develop in the first months of life, with recurrent infections and diarrhoea. Mental retardation, coarse facial features, and skeletal abnormalities are evident by adolescence. (05 Mar 2000) |
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| 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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제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
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제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
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