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Analysis of acylcarnitines in maternal urine for prenatal diagnosis of glutaric aciduria type 2
Author(s) -
Sakuma Toru,
Sugiyama Naruji,
Ichiki Takashi,
Kobayashi Masanori,
Wada Yoshiro,
Nohara Daisuke
Publication year - 1991
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970110203
Subject(s) - urine , urinary system , endocrinology , medicine , glutaric acid , pregnancy , prenatal diagnosis , carnitine , fetus , chemistry , biology , biochemistry , genetics
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.