Antenatal diagnosis in three pregnancies at risk for mannosidosis.
| Title: | Antenatal diagnosis in three pregnancies at risk for mannosidosis. |
|---|---|
| Authors: | Poenaru L; Girard S; Thepot F; Madelenat P; Huraux-Rendu C; Vinet MC; Dreyfus JC |
| Source: | Clinical genetics [Clin Genet] 1979 Dec; Vol. 16 (6), pp. 428-32. |
| Publication Type: | Case Reports; Historical Article; Journal Article |
| Language: | English |
| Journal Info: | Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print Cited Medium: Print ISSN: 0009-9163 (Print) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE |
| Imprint Name(s): | Original Publication: Copenhagen, Munksgaard. |
| MeSH Terms: | Prenatal Diagnosis*; Carbohydrate Metabolism, Inborn Errors/*diagnosis ; Glycosides/*metabolism ; Mannosides/*metabolism; Amniotic Fluid/cytology ; Amniotic Fluid/enzymology ; Carbohydrate Metabolism, Inborn Errors/genetics ; Fibroblasts/enzymology ; Leukocytes/enzymology ; Mannosidases/genetics ; Abortion, Induced ; Cells, Cultured ; Female ; History of Medicine ; Humans ; Pregnancy ; Risk |
| Abstract: | Three pregnancies were monitored in two families at risk for mannosidosis, alpha mannosidase and alpha fucosidase were determined on extracts from white blood cells of several members of these families, on fibroblast cell lines from the index cases and on uncultured and cultured amniotic cells of the foetuses. Two foetuses were diagnosed as affected and one as being free from the disease. The conclusions were confirmed on the affected foetuses after interruption of the pregnancy. The noticeable residual activity of alpha mannosidase found in some fibroblasts and cultured amniotic cells required complementary investigations (heat lability and dependency of substrate concentration) to reach a reliable diagnosis. Invesitgation of uncultured amniotic cells may give useful additional information. |
| Substance Nomenclature: | 0 (Glycosides); 0 (Mannosides); EC 3.2.1.- (Mannosidases) |
| Entry Date(s): | Date Created: 19791201 Date Completed: 19800417 Latest Revision: 20190816 |
| Update Code: | 20260130 |
| DOI: | 10.1111/j.1399-0004.1979.tb01351.x |
| PMID: | 393435 |
| Database: | MEDLINE |
Case Reports; Historical Article; Journal Article