Chemical analysis of succinylacetone and 4-hydroxyphenyllactate in amniotic fluid using selective ion monitoring.
A method for the measurement of the concentration of succinylacetone and 4-hydroxyphenyllactic acid in amniotic fluid was developed for the prenatal diagnosis of hereditary tyrosinemia. Succinylacetone was converted to 5-methyl-3-isoxazolepropionic acid and isolated with 4-hydroxyphenyllactic acid by liquid partition chromatography and the trimethylsilyl derivatives quantified by ammonia chemical ionization selected ion monitoring gas chromatography-mass spectrometry with 2-hydroxy-n-caproic acid as the internal standard. The concentration of 4-hydroxyphenyllactic acid in normal amniotic fluid was 1.97 +/- 0.75 (S.D.) mumol/l while succinylacetone was undetectable. A pregnancy at risk for tyrosinemia type II was monitored. The concentration of 4-hydroxyphenyllactic acid was within the normal range and a healthy child was born.
D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis; D000653:Amniotic Fluid / Q000032:analysis*; D005260:Female; D008401:Gas Chromatography-Mass Spectrometry; D006537:Heptanoates / Q000032:analysis*; D006538:Heptanoic Acids / Q000032:analysis*; D006801:Humans; D010666:Phenylpropionates / Q000032:analysis*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014443:Tyrosine / Q000097:blood
D006537:Heptanoates; D006538:Heptanoic Acids; D010666:Phenylpropionates; C001418:4-hydroxyphenyllactic acid; D014443:Tyrosine; C020804:succinylacetone