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 journalArticle

9 Citations (Scopus)

Abstract

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
Volume55
Issue number9
DOIs
StatePublished - 1980
Externally publishedYes

Fingerprint

Homocystinuria
Homocystine
Fetus
Mothers
Cystathionine beta-Synthase
Amniotic Fluid
Fluids
Methionine
Aborted Fetus
Carrier State
Assays
Pregnancy
Amniocentesis

ASJC Scopus subject areas

  • Rheumatology
  • Immunology
  • Biochemistry, Genetics and Molecular Biology(all)
  • Immunology and Allergy
  • Pediatrics, Perinatology, and Child Health

Cite this

Kurczynski, T. W., Muir, W. A., Fleisher, L. D., Palomaki, J. F., Gaull, G. E., Rassin, D. K., & Abramowsky, C. (1980). Maternal homocystinuria: Studies of an untreated mother and fetus. Archives of Disease in Childhood, 55(9), 721-723. https://doi.org/10.1136/adc.55.9.721

Maternal homocystinuria : Studies of an untreated mother and fetus. / Kurczynski, T. W.; Muir, W. A.; Fleisher, L. D.; Palomaki, J. F.; Gaull, G. E.; Rassin, D. K.; Abramowsky, C.

In: Archives of Disease in Childhood, Vol. 55, No. 9, 1980, p. 721-723.

Research output: Contribution to journalArticle

Kurczynski, TW, Muir, WA, Fleisher, LD, Palomaki, JF, Gaull, GE, Rassin, DK & Abramowsky, C 1980, 'Maternal homocystinuria: Studies of an untreated mother and fetus', Archives of Disease in Childhood, vol. 55, no. 9, pp. 721-723. https://doi.org/10.1136/adc.55.9.721
Kurczynski TW, Muir WA, Fleisher LD, Palomaki JF, Gaull GE, Rassin DK et al. Maternal homocystinuria: Studies of an untreated mother and fetus. Archives of Disease in Childhood. 1980;55(9):721-723. https://doi.org/10.1136/adc.55.9.721
Kurczynski, T. W. ; Muir, W. A. ; Fleisher, L. D. ; Palomaki, J. F. ; Gaull, G. E. ; Rassin, D. K. ; Abramowsky, C. / Maternal homocystinuria : Studies of an untreated mother and fetus. In: Archives of Disease in Childhood. 1980 ; Vol. 55, No. 9. pp. 721-723.
@article{3f98f1e37a5f4add87390b77013408c4,
title = "Maternal homocystinuria: Studies of an untreated mother and fetus",
abstract = "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.",
author = "Kurczynski, {T. W.} and Muir, {W. A.} and Fleisher, {L. D.} and Palomaki, {J. F.} and Gaull, {G. E.} and Rassin, {D. K.} and C. Abramowsky",
year = "1980",
doi = "10.1136/adc.55.9.721",
language = "English (US)",
volume = "55",
pages = "721--723",
journal = "Archives of Disease in Childhood",
issn = "0003-9888",
publisher = "BMJ Publishing Group",
number = "9",

}

TY - JOUR

T1 - Maternal homocystinuria

T2 - Studies of an untreated mother and fetus

AU - Kurczynski, T. W.

AU - Muir, W. A.

AU - Fleisher, L. D.

AU - Palomaki, J. F.

AU - Gaull, G. E.

AU - Rassin, D. K.

AU - Abramowsky, C.

PY - 1980

Y1 - 1980

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=0018962262&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0018962262&partnerID=8YFLogxK

U2 - 10.1136/adc.55.9.721

DO - 10.1136/adc.55.9.721

M3 - Article

C2 - 7436540

AN - SCOPUS:0018962262

VL - 55

SP - 721

EP - 723

JO - Archives of Disease in Childhood

JF - Archives of Disease in Childhood

SN - 0003-9888

IS - 9

ER -