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Related Experiment Videos

Amniotic fluid propionylcarnitine in methylmalonic aciduria.

D Penn1, E Schmidt-Sommerfeld, C Jakobs

  • 1Department of Pediatrics, Justus-Liebig University, Giessen, Federal Republic of Germany.

Journal of Inherited Metabolic Disease
|January 1, 1987
PubMed
Summary

Early detection of fetal methylmalonic aciduria is possible. Amniotic fluid propionylcarnitine levels can indicate this metabolic disorder in pregnancies.

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Area of Science:

  • Biochemistry
  • Metabolic Disorders
  • Prenatal Diagnosis

Background:

  • Methylmalonic aciduria is a serious inherited metabolic disorder affecting newborns.
  • Early detection and intervention are crucial for managing the condition and preventing severe complications.
  • Current diagnostic methods may not always identify the disorder early in gestation.

Purpose of the Study:

  • To investigate carnitine metabolism in pregnancies complicated by fetal methylmalonic aciduria.
  • To determine if amniotic fluid carnitine profiles can serve as early indicators of fetal methylmalonic aciduria.
  • To assess the potential of propionylcarnitine as a biomarker for this condition.

Main Methods:

  • Amniotic fluid samples were collected from pregnancies at 16-18 weeks gestation.

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  • Samples were analyzed for total, free, and acylcarnitine, including individual carnitine esters.
  • Comparisons were made between pregnancies with fetal methylmalonic aciduria and metabolically normal pregnancies.

    • Main Results:

    • Elevated concentrations of total acylcarnitine and propionylcarnitine were observed in amniotic fluid from pregnancies with methylmalonic aciduria.
    • Propionylcarnitine was the predominant carnitine ester in the methylmalonic aciduria group.
    • Acetylcarnitine was the predominant carnitine ester in the normal pregnancy group.

    Conclusions:

    • Abnormalities in carnitine metabolism are present early in gestation in cases of fetal methylmalonic aciduria.
    • Amniotic fluid propionylcarnitine levels show promise as an additional diagnostic marker for fetal methylmalonic aciduria.
    • This finding supports the potential for early prenatal screening of methylmalonic aciduria through amniotic fluid analysis.