Sakuma T, Sugiyama N, Ichiki T, Kobayashi M, Wada Y, Nohara D
Department of Pediatrics, Nagoya City University Medical School, Japan.
Prenat Diagn. 1991 Feb;11(2):77-82. doi: 10.1002/pd.1970110203.
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.
