Possibility of prenatal diagnosis of hereditary triose phosphate isomerase deficiency |
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Authors: | Dr R Rosa M O Prehu M C Calvin F Daffos F Forestier |
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Institution: | 1. Unité 91 INSERM, Hǒpital Henri Mondor, 94010 Crěteil, France;2. Hǒpital Notre-Dame de Bon Secours, 75014 Paris, France |
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Abstract: | Prenatal diagnosis has been performed on umbilical cord blood of an 18 weeks fetus of heterozygous triosephosphate isomerase (TPI) deficient parents. After excluding maternal blood contamination, TPI activity was measured and found to be 60 per cent of the normal mean whereas the value of glucose-6-phosphate dehydrogenase activity was in the normal range of fetal blood. In addition, the analysis of the characteristics of fetal TPI, i.e. Km measurements for glyceraldehyde-3-phosphate, heat stability tests and electrophoretic studies, did not show any evidence of a special form of TPI in fetal blood. These results were consistent with the heterozygous state and were confirmed at birth. |
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Keywords: | Triosephosphate isomerase Enzyme deficiency Fetal enzymes Prenatal diagnosis |
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