Maternal homocystinuria: Studies of an untreated mother and fetus

T. W. Kurczynski, W. A. Muir, L. D. Fleisher, J. F. Palomaki, G. E. Gaull, D. K. Rassin, C. Abramowsky

Research output: Contribution to journalArticlepeer-review

9 Scopus citations


A 20-year-old woman with untreated homocystinuria was examined when she was 18 weeks' pregnant. Amniocentesis was performed and raised levels of homocystine and methionine were present in the amniotic fluid. Assay of cystathionine synthetase activity in cultured amniotic fluid cells showed the carrier state for homocystinuria. An abortion was performed because of the possible adverse effects of continuing the pregnancy both for the mother and the fetus. No pathological abnormality was found in the aborted fetus. Further data are needed to assess the possible teratogenic effects of maternal homocystinuria and the adverse consequences of pregnancy in the affected mother.

Original languageEnglish (US)
Pages (from-to)721-723
Number of pages3
JournalArchives of Disease in Childhood
Issue number9
StatePublished - 1980
Externally publishedYes

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


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