L-2-hydroxyglutaric acidemia: a novel inherited neurometabolic disease.

@article{Barth1992L2hydroxyglutaricAA,
  title={L-2-hydroxyglutaric acidemia: a novel inherited neurometabolic disease.},
  author={Peter G. Barth and Georg Friedrich Hoffmann and Jaak Jaeken and Willy Lehnert and Folker A Hanefeld and Albert H van Gennip and M. X. Pe{\~n}a Dur{\'a}n and Jolande van der Valk and Ruud B. H. Schutgens and F. K. Trefz},
  journal={Annals of neurology},
  year={1992},
  volume={32 1},
  pages={
          66-71
        }
}
Routine screening for organic acids revealed increased and isolated urinary excretion of L-2-hydroxyglutaric acid in 8 mentally retarded patients from five unrelated families, including three pairs of siblings. L-2-Hydroxyglutaric acid concentration was also found to be increased in the cerebrospinal fluid (CSF) and to a lesser extent in plasma. The only other biochemical abnormality was an increased concentration of lysine, both in plasma and in CSF. No organic acid abnormality was found on… CONTINUE READING
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