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Case Reports
. 1988 Jun;147(5):529-31.
doi: 10.1007/BF00441983.

4-Hydroxybutyric aciduria in a patient without ataxia or convulsions

K M Gibson  1 , G Hoffmann, W L Nyhan, S Aramaki, J A Thompson, S I Goodman, D A Johnson, R R Fife
Affiliations
Case Reports

4-Hydroxybutyric aciduria in a patient without ataxia or convulsions

K M Gibson et al. Eur J Pediatr. 1988 Jun.

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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