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4-Hydroxybutyric aciduria in a patient without ataxia or convulsions
K M Gibson1, G Hoffmann, W L Nyhan
1Department of Pediatrics, University of California, San Diego, La Jolla 92093.
European Journal of Pediatrics
|June 1, 1988
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.