Rapid and sensitive detection of urinary 4-hydroxybutyric acid and its related compounds by gas chromatography-mass spectrometry in a patient with succinic semialdehyde dehydrogenase deficiency.

@article{Shinka2002RapidAS,
  title={Rapid and sensitive detection of urinary 4-hydroxybutyric acid and its related compounds by gas chromatography-mass spectrometry in a patient with succinic semialdehyde dehydrogenase deficiency.},
  author={Toshihiro Shinka and Yoshito Inoue and Morimasa Ohse and Akira Ito and Masaharu Ohfu and Shinichi Hirose and Tomiko Kuhara},
  journal={Journal of chromatography. B, Analytical technologies in the biomedical and life sciences},
  year={2002},
  volume={776 1},
  pages={
          57-63
        }
}
  • T. Shinka, Y. Inoue, +4 authors T. Kuhara
  • Published 2002
  • Chemistry, Medicine
  • Journal of chromatography. B, Analytical technologies in the biomedical and life sciences
We describe the rapid and sensitive detection of 4-hydroxybutyric acid, which is a marker compound for succinic semialdehyde dehydrogenase (SSADH) deficiency. Urinary 4-hydroxybutyric acid and 3,4-dihydroxybutyric acid were targeted, quantified by gas chromatography-mass spectrometry after simplified urease digestion in which lactone formation from gamma-hydroxy acids is minimized. The recovery of 4-hydroxybutyric acid using this method was over 93%. 2,2-Dimethylsuccinic acid was used as an… Expand
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  • Chemistry, Medicine
  • Journal of chromatography. B, Analytical technologies in the biomedical and life sciences
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Succinic semialdehyde dehydrogenase deficiency (SSADH) (4-hydroxybutyric aciduria, gamma-hydroxybutyric aciduria).
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The pathogenesis of the condition is discussed, especially the results of the disturbed GABA catabolism, and the production of the gamma-hydroxybutyric acid, which suggest it may act as a neurotransmitter or neuromodulator in the brain. Expand
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TLDR
The administration of vigabatrine rapidly reduced the excretion of 4-hydroxybutyric acid promptly, and in the long-term its excretion could be kept at 80-200 times that of normal, however, the clinical course of the disease improved in only two, remained the same in two, and worsened in the remaining two patients. Expand