Mucopolysaccharidosis VII as cause of fetal hydrops in early pregnancy

Am J Med Genet. 1992 Sep 15;44(2):142-4. doi: 10.1002/ajmg.1320440205.

Abstract

We report on fetal hydrops presenting at 18 weeks of gestation and diagnosed as beta-glucuronidase deficiency. The parents were first cousins and there were 2 previous similar fetal deaths. beta-Glucuronidase was absent in cultured fetal fibroblasts and lymphoblasts but was normal in the tested relatives. The activities of other lysosomal enzymes were normal.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Consanguinity
  • Female
  • Gestational Age
  • Glucuronidase / deficiency
  • Humans
  • Hydrops Fetalis / enzymology
  • Hydrops Fetalis / etiology*
  • Hydrops Fetalis / genetics
  • Lysosomes / enzymology
  • Male
  • Mucopolysaccharidosis VII / complications*
  • Mucopolysaccharidosis VII / enzymology
  • Mucopolysaccharidosis VII / genetics
  • Pedigree
  • Pregnancy

Substances

  • Glucuronidase