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Journal of Inherited Metabolic Disease

, Volume 2, Issue 2, pp 29–34 | Cite as

β-Glucuronidase deficiency: Enzyme studies in an affected family and prenatal diagnosis

  • I. Maire
  • G. Mandon
  • M. T. Zabot
  • M. Mathieu
  • P. Guibaud
Article

Abstract

Aβ-glucuronidase deficiency found in serum, leukocytes and fibroblasts and an increased [35S]sulphate incorporation in fibroblasts led us to diagnose two cases of type VII mucopolysaccharidosis in one family. In spite of the wide distribution of activities in serum from controls, decreasedβ-glucuronidase activity allowed us to demonstrate the heterozygous status of the parents and two other children. Following these studies, an antenatal diagnosis was performed when the mother was pregnant again; amniotic fluid and cultured amniotic cells were used for enzyme activity determination. A heterozygous fetus was suspected and confirmed after birth. The reliability of various biological materials for enzymatic diagnosis and existence of genetic variants in the normal population are discussed.

Keywords

Genetic Variant Normal Population Wide Distribution Biological Material Amniotic Fluid 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Kluwer Academic Publishers 1979

Authors and Affiliations

  • I. Maire
    • 1
  • G. Mandon
    • 1
  • M. T. Zabot
    • 1
  • M. Mathieu
    • 1
  • P. Guibaud
    • 2
  1. 1.Laboratorie d'Enzymologie et de Culture CellulaireHôpital DebrousseLyonFrance
  2. 2.Service de PédiatrieHôpital DebrousseLyonFrance

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