Analysis of acylcarnitines in maternal urine for prenatal diagnosis of glutaric aciduria type 2

Prenat Diagn. 1991 Feb;11(2):77-82. doi: 10.1002/pd.1970110203.

Abstract

The urinary acylcarnitine profiles of two mothers whose first children were diagnosed to have glutaric aciduria type 2 (multiple acyl-CoA dehydrogenation deficiency, electron transfer flavoprotein (ETF) deficiency) were analysed in the second pregnancy. Large volumes of tigrylcarnitine and isovalerylcarnitine and a little glutarylcarnitine were detected. Each fetus was also diagnosed to be abnormal by enzyme activity and immunoassay of ETF protein. The acylcarnitines in the mothers' urine disappeared in 1 week after labour or artificial abortion. Acylcarnitines were never detected in the urine of controls.

MeSH terms

  • Abortion, Induced
  • Amino Acid Metabolism, Inborn Errors / diagnosis*
  • Amniotic Fluid / chemistry
  • Carnitine / analogs & derivatives*
  • Carnitine / urine*
  • Female
  • Glutarates / urine*
  • Humans
  • Pregnancy
  • Prenatal Diagnosis / methods*

Substances

  • Glutarates
  • tigrylcarnitine
  • glutarylcarnitine
  • isobutyryl-1-carnitine
  • 3-methylbutyrylcarnitine
  • glutaric acid
  • Carnitine