Chemical analysis of succinylacetone and 4-hydroxyphenyllactate in amniotic fluid using selective ion monitoring |
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| Authors: | Cornelis Jakobs Lawrence Sweetman William L Nyhan |
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| Institution: | Department of Pediatrics, University of California San Diego, La Jolla, CA, U.S.A. |
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| Abstract: | 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.) μmol/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. |
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| Keywords: | Succinylacetone 4-Hydroxyphenyllactate Amniotic fluid Prenatal diagnosis Hereditary tyrosinemia |
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