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Amniotic fluid odd-chain fatty acids are increased in propionic acidaemia

M Coker1, M Duran, J B De Klerk

  • 1Erasmus University, Department of Clinical Genetics, Rotterdam, The Netherlands.

Prenatal Diagnosis
|October 1, 1996
PubMed
Summary

Odd-chain fatty acids accumulate prenatally in propionic acidaemia pregnancies, as shown by amniotic fluid analysis. This finding aids in diagnosing this metabolic disorder during pregnancy.

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Area of Science:

  • Biochemistry
  • Metabolic Disorders
  • Prenatal Diagnostics

Background:

  • Odd-chain fatty acids (e.g., C15, C17) are known to accumulate in patients with propionic acidaemia and methylmalonic acidaemia.
  • Investigating prenatal accumulation of these fatty acids can offer insights into early disease detection.

Purpose of the Study:

  • To investigate the presence and levels of odd-chain fatty acids in amniotic fluid.
  • To determine if odd-chain fatty acids can serve as prenatal biomarkers for propionic and methylmalonic acidaemia.

Main Methods:

  • Analysis of amniotic fluid samples from pregnancies affected by propionic acidaemia and methylmalonic acidaemia.
  • Quantification of odd-chain fatty acids (C15, C17) as a percentage of total fatty acids (C12-C20).
  • Comparison of levels in affected pregnancies with control samples.

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Main Results:

  • Control amniotic fluid samples showed odd-chain fatty acid levels ranging from 3.7% to 12.5%.
  • Samples from three propionic acidaemia pregnancies exhibited elevated levels (15.3%–22.9%).
  • One methylmalonic acidaemia sample showed a normal level (9.3%).

Conclusions:

  • Prenatal accumulation of odd-chain fatty acids is evident in propionic acidaemia.
  • Amniotic fluid analysis for odd-chain fatty acids shows potential as a diagnostic tool for propionic acidaemia during pregnancy.