Abstract
First-trimester prenatal diagnosis was undertaken by chorionic villus DNA analysis in two unrelated families with the inherited glycolytic disorder triosephosphate isomerase (TPI) deficiency. The propositus in each family was shown to be homozygous for a missense mutation (GAG --> GAC) at codon 104 of the TPI gene. In the first case the fetus was heterozygous for the codon 104 mutation and therefore clinically unaffected. Prenatal diagnosis in the second case showed the fetus to be homozygous for the codon 104 mutation and thus affected by TPI deficiency. This represents the first molecular diagnosis during early pregnancy of a human glycolytic enzyme disorder.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Base Sequence
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Carbohydrate Metabolism, Inborn Errors / diagnosis*
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Carbohydrate Metabolism, Inborn Errors / embryology
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Carbohydrate Metabolism, Inborn Errors / enzymology
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Child, Preschool
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Chorionic Villi Sampling*
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Codon / genetics
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Female
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Fetal Blood / chemistry
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Fetal Diseases / diagnosis*
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Fetal Diseases / embryology
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Fetal Diseases / enzymology
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Genotype
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Glycolysis / genetics
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Humans
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Infant
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Molecular Sequence Data
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Pedigree
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Point Mutation
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Pregnancy
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Pregnancy Trimester, First
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Triose-Phosphate Isomerase / blood
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Triose-Phosphate Isomerase / deficiency*
Substances
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Codon
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Triose-Phosphate Isomerase