Prenatal diagnosis of Maroteaux-Lamy syndrome

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

Research output: Contribution to journalArticlepeer-review

5 Scopus citations

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 (US)
Pages (from-to)235-242
Number of pages8
JournalAmerican Journal of Medical Genetics
Volume8
Issue number2
DOIs
StatePublished - 1981
Externally publishedYes

ASJC Scopus subject areas

  • Genetics(clinical)

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