Prenatal diagnosis of Maroteaux-Lamy syndrome

D. L. van Dyke, A. L. Fluharty, I. A. Schafer, L. J. Shapiro, H. Kihara, L. Weiss

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    Abstract

    Maroteaux-Lamy syndrome exhibits deficient activity of the enzyme arylsulfatase-B in cultured skin fibroblasts. Prenatal diagnosis was successfully attempted in two pregnancies of a consanguineous Chaldean couple whose first child is affected with Maroteaux-Lamy syndrome. In both instances, deficient arylsulfatase-B activity was observed in amniotic fluid cell cultures, and the diagnosis was confirmed by 35S-sulfate studies and postmortem enzymology and electron microscopy. The prenatal diagnosis of Maroteaux-Lamy syndrome remains problematic. Residual activity of arylsulfatase-B in the affected homozygote can make interpretation difficult, and the behavior of many lysosomal enzymes varies greatly in response to tissue culture conditions and enzyme extraction processes.

    Original languageEnglish
    Pages (from-to)235-242
    Number of pages8
    JournalAmerican journal of medical genetics
    Volume8
    Issue number2
    DOIs
    StatePublished - Sep 4 1981

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    van Dyke, D. L., Fluharty, A. L., Schafer, I. A., Shapiro, L. J., Kihara, H., & Weiss, L. (1981). Prenatal diagnosis of Maroteaux-Lamy syndrome. American journal of medical genetics, 8(2), 235-242. https://doi.org/10.1002/ajmg.1320080215