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Detection of heterozygotes for aspartylglucosaminuria (AGU) in cultured fibroblasts

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Summary

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 fibroblasts from 40 siblings of verified AGU patients in order to detect the heterozygotes among them. The results indicate that 24 cell lines had an AADGase activity compatible with hterozygous state of AGU and 16 cell lines had normal AADGase activity. The results are in good agreement with the theoretical expectations. AADGase activity was also determined in 9 cell cultures from amniotic fluid samples of midterm pregnancies. Amniotic cell cultures had AADGase activities similar to normal fibroblast cultures. AADGase assay on cultured cells from amniotic fluid is potentially applicable for prenatal diagnosis of AGU in high risk pregnancies.

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Authors and Affiliations

  1. Children's Hospital and Third Department of Pathology, University of Helsinki, Helsinki, Finland

    P. Aula, S. Autio, K. Raivio & V. Näntö

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  1. P. Aula
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  2. S. Autio
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  3. K. Raivio
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  4. V. Näntö
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Supported by grants from the National Research Council for Medical Sciences, Finland and the Sigrid Jusélius Foundation.

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Aula, P., Autio, S., Raivio, K. et al. Detection of heterozygotes for aspartylglucosaminuria (AGU) in cultured fibroblasts. Humangenetik 25, 307–314 (1974). https://doi.org/10.1007/BF00336906

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  • DOI: https://doi.org/10.1007/BF00336906

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