Gas-chromatographic/mass spectrometric detection of 3-hydroxy-3-methylglutaryl-CoA lyase deficiency in double first cousins.

@article{Norman1982GaschromatographicmassSD,
  title={Gas-chromatographic/mass spectrometric detection of 3-hydroxy-3-methylglutaryl-CoA lyase deficiency in double first cousins.},
  author={Eric Jesse Norman and Mark D. Denton and Helen K. Berry},
  journal={Clinical chemistry},
  year={1982},
  volume={28 1},
  pages={
          137-40
        }
}
Gas chromatography/mass spectrometry was used for the detection of 3-hydroxy-3-methylglutaryl-CoA lyase (EC 4.1.3.4) deficiency in double first cousins. This enzyme is in the last step of leucine catabolism and is also involved in ketogenesis. Quantitation of urinary organic acids as their cyclohexyl esters demonstrated increased concentrations of 3-hydroxy-3-methylglutaric acid, 3-methylglutaconic acid, 3-methylglutaric acid, and 3-hydroxyisovaleric acid. The procedure is more rapid, sensitive… CONTINUE READING

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