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4-Hydroxybutyric aciduria in a patient without ataxia or convulsions

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Abstract

A child presenting with mild psychomotor retardation, hypotonia, microcephaly and hyperkinesis is described. Urinary organic acid analysis by combined gas chromatography-mass spectrometry revealed 4-hydroxybutyric aciduria. Succinic semialdehyde dehydrogenase activity in extracts of white cells derived from the patient was less than 10% of control values.

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Abbreviations

GABA:

gamma aminobutyric acid

References

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Authors and Affiliations

  1. Department of Pediatrics, University of California, San Diego, 92093, La Jolla, CA, USA

    K. M. Gibson, G. Hoffmann, W. L. Nyhan & S. Aramaki

  2. Department of Neurology, Primary Children's Medical Center, 320 Twelfth Avenue, 84103, Salt Lake City, UT

    J. A. Thompson

  3. Department of Pediatrics, University of Colorado Health Sciences Center, Box C233, 80262, Denver, CO, USA

    S. I. Goodman

  4. Rexburg Pediatric Clinic, P.A., 30-B Professional Plaza, 93440, Rexburg, ID

    D. A. Johnson

  5. Medical Center for Children and Adolescents, Ninth and Oxford, 83401, Idaho Falls, ID, USA

    R. R. Fife

Authors
  1. K. M. Gibson
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  2. G. Hoffmann
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  3. W. L. Nyhan
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  4. S. Aramaki
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  5. J. A. Thompson
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  6. S. I. Goodman
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  7. D. A. Johnson
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  8. R. R. Fife
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Gibson, K.M., Hoffmann, G., Nyhan, W.L. et al. 4-Hydroxybutyric aciduria in a patient without ataxia or convulsions. Eur J Pediatr 147, 529–531 (1988). https://doi.org/10.1007/BF00441983

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  • DOI: https://doi.org/10.1007/BF00441983

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