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European Journal of Pediatrics

, Volume 147, Issue 5, pp 529–531 | Cite as

4-Hydroxybutyric aciduria in a patient without ataxia or convulsions

  • K. M. Gibson
  • G. Hoffmann
  • W. L. Nyhan
  • S. Aramaki
  • J. A. Thompson
  • S. I. Goodman
  • D. A. Johnson
  • R. R. Fife
Case Reports

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.

Key words

4-Hydroxybutyric aciduria Succinic semialdehyde dehydrogenase deficiency Aminobutyric acid (GABA) metabolism Hyperactivity Hypotonia 

Abbreviation

GABA

gamma aminobutyric acid

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References

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Copyright information

© Springer-Verlag 1988

Authors and Affiliations

  • K. M. Gibson
    • 1
  • G. Hoffmann
    • 1
  • W. L. Nyhan
    • 1
  • S. Aramaki
    • 1
  • J. A. Thompson
    • 2
  • S. I. Goodman
    • 3
  • D. A. Johnson
    • 4
  • R. R. Fife
    • 5
  1. 1.Department of PediatricsUniversity of California, San DiegoLa JollaUSA
  2. 2.Department of NeurologyPrimary Children's Medical CenterSalt Lake City
  3. 3.Department of PediatricsUniversity of Colorado Health Sciences CenterDenverUSA
  4. 4.Rexburg Pediatric Clinic, P.A.Rexburg
  5. 5.Medical Center for Children and AdolescentsIdaho FallsUSA

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