4-Hydroxybutyric aciduria in a patient without ataxia or convulsions
- 1 June 1988
- journal article
- case report
- Published by Springer Nature in European Journal of Pediatrics
- Vol. 147 (5) , 529-531
- https://doi.org/10.1007/bf00441983
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.Keywords
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