Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: KEGG:D03345 (beta-Galactosidase)
 434 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A prenatal diagnosis of Hurler's syndrome was made in a pregnancy at risk in a family with two affected children. The fetus was diagnosed as having Hurler's syndrome on the basis of a deficiency of alpha-L-iduronidase in the cultured amniotic cells. The glycosaminoglycans (GAG) content in the supernatant of the amniotic fluid was increased about 1.5 fold compared with that in the control, and increases of heparan sulfate and dermatan sulfate were observed on electrophoresis. The diagnosis could be confirmed by the deficiencies of alpha-L-iduronidase in the liver and brain from the affected fetus. GAG content in the liver from the affected fetus was increased approximately 10 fold as compared with that in the control fetal liver, and most of the GAG were degraded. The GAG content was observed to be increased two fold in the brain, and dermatan sulfate, which was not detected in normal fetal brain, was identified. beta-Galactosidase activities in the affected liver and brain were decreased to 30-50% of the control, and an altered hexosaminidase A was also observed in the liver.
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PMID:Prenatal diagnosis of Hurler's syndrome--biochemical studies on the affected fetus. 680 Sep 29