β‐glucuronidase deficiency as a cause of fetal hydrops
- 1 March 1992
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 42 (5) , 693-695
- https://doi.org/10.1002/ajmg.1320420513
Abstract
Mucopolysaccharidosis type VII (MPS VII) was diagnosed in a case of severe fetal hydrops. β‐glucuronidase deficiency was demonstrated in the amniotic fluid, which was obtanined at 25 weeks of gestation, and in the fibroblasts of the child, which were cultured atter fetal death in the 26th week of gestation. In the amniotic fluid the two‐dimensional eletrophoresis 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.Keywords
This publication has 18 references indexed in Scilit:
- β‐Glucuronidase deficiency as a cause of prenatally diagnosed non‐immune hydrops fetalisPrenatal Diagnosis, 1991
- Hydrops revisited: Literature review of 1, 414 cases published in the 1980sAmerican Journal of Medical Genetics, 1989
- Postmortem observations on β‐glucuronidase deficiency presenting as hydrops fetalisAnnals of Neurology, 1983
- Mucopolysaccharidosis VII (β-glucuronidase deficiency) presenting as nonimmune hydrops fetalisThe Journal of Pediatrics, 1982
- Mucopolysaccharidosis type VII (β‐glucuronidase deficiency): a report of a new case and a survey of those in the literatureClinical Genetics, 1982
- A method for the determination of amniotic-fluid glycosaminoglycans and its application to the prenatal diagnosis of hurler and sanfilippo diseasesClinica Chimica Acta; International Journal of Clinical Chemistry, 1977
- Variation in the phenotypic expression of β-glucuronidase deficiencyThe Journal of Pediatrics, 1975
- Two-dimensional electrophoresis of urinary mucopolysaccharides on cellulose acetate after f-cetylpyridiniumchloride (CPC) precipitation: A method suitable for the routine laboratoryClinica Chimica Acta; International Journal of Clinical Chemistry, 1974
- Beta glucuronidase deficiency: Report of clinical, radiologic, and biochemical features of a new mucopolysaccharidosisThe Journal of Pediatrics, 1973