Possibility of prenatal diagnosis of hereditary triose phosphate isomerase deficiency

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-...

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Bibliographic Details
Published inPrenatal diagnosis Vol. 6; no. 3; p. 231
Main Authors Rosa, R, Prehu, M O, Calvin, M C, Daffos, F, Forestier, F
Format Journal Article
LanguageEnglish
Published England 01.05.1986
Subjects
Anemia, Hemolytic, Congenital - diagnosis
Carbohydrate Epimerases - deficiency
Female
Fetal Blood - analysis
Fetal Blood - enzymology
Fetal Diseases - diagnosis
Heterozygote
Humans
Infant, Newborn
Male
Metabolism, Inborn Errors - diagnosis
Metabolism, Inborn Errors - genetics
Pregnancy
Prenatal Diagnosis
Triose-Phosphate Isomerase - blood
Triose-Phosphate Isomerase - deficiency
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Summary: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.
ISSN:0197-3851
1097-0223
DOI:10.1002/pd.1970060312