Am J Med Genet. 1992 Mar 1;42(5):693-5.

beta-Glucuronidase deficiency as a cause of fetal hydrops.

Kagie MJ, Kleijer WJ, Huijmans JG, Maaswinkel-Mooy P, Kanhai HH.

Source

Department of Obstetrics, University Hospital Leiden, The Netherlands.

Abstract

Mucopolysaccharidosis type VII (MPS VII) was diagnosed in a case of severe fetal hydrops. beta-glucuronidase deficiency was demonstrated in the amniotic fluid, which was obtained at 25 weeks of gestation, and in the fibroblasts of the child, which were cultured after fetal death in the 26th week of gestation. In the amniotic fluid the two-dimensional electrophoresis pattern of glycosaminoglycans was in agreement with MPS VII. Based on these results, prenatal diagnosis could be offered to the couple for the next pregnancy.

PMID:: 1632440; [PubMed - indexed for MEDLINE]

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Case Reports

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Glucuronidase

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Cited by 2 PubMed Central articles

Mucopolysaccharidosis type VII associated with hydrops fetalis: histopathological and ultrastructural features with genetic implications. [J Clin Pathol. 1997]
Mucopolysaccharidosis type VII associated with hydrops fetalis: histopathological and ultrastructural features with genetic implications.
Molyneux AJ, Blair E, Coleman N, Daish P. J Clin Pathol. 1997 Mar; 50(3):252-4.
Molecular analysis of patients with beta-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VII. [Am J Hum Genet. 1996]
Molecular analysis of patients with beta-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VII.
Vervoort R, Islam MR, Sly WS, Zabot MT, Kleijer WJ, Chabas A, Fensom A, Young EP, Liebaers I, Lissens W. Am J Hum Genet. 1996 Mar; 58(3):457-71.

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