Detection of heterozygotes for aspartylglucosaminuria (AGU) in cultured fibroblasts


Aspartylglucosaminuria (AGU) is an autosomally recessively inherited lysosomal storage disorder due to deficiency of a glycoprotein degradating enzyme 4-L-aspartylglycosylamine amido hydrolase (AADGase). Heterozygote detection in AGU is at the present only possible with enzyme assays on cultured fibroblasts. We have determined AADGase activity on cultured… (More)
DOI: 10.1007/BF00336906


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