Mucopolysaccharidosis VII as cause of fetal hydrops in early pregnancy.
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.
Stangenberg
M
M
Department of Obstetrics/Gynecology, King Faisal Hospital and Research Centre, Riyadh, Saudi Arabia.
Lingman
G
G
Roberts
G
G
Ozand
P
P
D000328:Adult; D003241:Consanguinity; D005260:Female; D005865:Gestational Age; D005966:Glucuronidase / Q000172:deficiency; D006801:Humans; D015160:Hydrops Fetalis / Q000201:enzymology / Q000209:etiology* / Q000235:genetics; D008247:Lysosomes / Q000201:enzymology; D008297:Male; D016538:Mucopolysaccharidosis VII / Q000150:complications* / Q000201:enzymology / Q000235:genetics; D010375:Pedigree; D011247:Pregnancy
D005966:Glucuronidase