Acylcarnitines in amniotic fluid: application to the prenatal diagnosis of propionic acidaemia.
Publication
, Journal Article
Van Hove, JL; Chace, DH; Kahler, SG; Millington, DS
Published in: J Inherit Metab Dis
1993
Acylcarnitines were assayed in amniotic fluid by isotope dilution tandem mass spectrometry. Control values for propionylcarnitine, C4 and C5 acylcarnitines were established. Propionylcarnitine was elevated by a factor of 5 relative to controls in the amniotic fluid of three pregnancies affected with propionic acidaemia. This may provide a convenient new method for prenatal diagnosis of propionic acidaemia. One pregnancy at risk for propionic acidaemia but unaffected according to methylcitrate analysis had an intermediate level of propionylcarnitine, indicating the need for further studies to determine the range of concentration in probable heterozygotes.
Duke Scholars
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Published In
J Inherit Metab Dis
DOI
ISSN
0141-8955
Publication Date
1993
Volume
16
Issue
2
Start / End Page
361 / 367
Location
United States
Related Subject Headings
- Reference Values
- Propionates
- Prenatal Diagnosis
- Pregnancy
- Mass Spectrometry
- Humans
- Gestational Age
- Genetics & Heredity
- Female
- Carnitine
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Van Hove, J. L., Chace, D. H., Kahler, S. G., & Millington, D. S. (1993). Acylcarnitines in amniotic fluid: application to the prenatal diagnosis of propionic acidaemia. J Inherit Metab Dis, 16(2), 361–367. https://doi.org/10.1007/BF00710283
Van Hove, J. L., D. H. Chace, S. G. Kahler, and D. S. Millington. “Acylcarnitines in amniotic fluid: application to the prenatal diagnosis of propionic acidaemia.” J Inherit Metab Dis 16, no. 2 (1993): 361–67. https://doi.org/10.1007/BF00710283.
Van Hove JL, Chace DH, Kahler SG, Millington DS. Acylcarnitines in amniotic fluid: application to the prenatal diagnosis of propionic acidaemia. J Inherit Metab Dis. 1993;16(2):361–7.
Van Hove, J. L., et al. “Acylcarnitines in amniotic fluid: application to the prenatal diagnosis of propionic acidaemia.” J Inherit Metab Dis, vol. 16, no. 2, 1993, pp. 361–67. Pubmed, doi:10.1007/BF00710283.
Van Hove JL, Chace DH, Kahler SG, Millington DS. Acylcarnitines in amniotic fluid: application to the prenatal diagnosis of propionic acidaemia. J Inherit Metab Dis. 1993;16(2):361–367.
Published In
J Inherit Metab Dis
DOI
ISSN
0141-8955
Publication Date
1993
Volume
16
Issue
2
Start / End Page
361 / 367
Location
United States
Related Subject Headings
- Reference Values
- Propionates
- Prenatal Diagnosis
- Pregnancy
- Mass Spectrometry
- Humans
- Gestational Age
- Genetics & Heredity
- Female
- Carnitine