4-Hydroxybutyric aciduria in a patient without ataxia or convulsions

✍ Scribed by K. M. Gibson; G. Hoffmann; W. L. Nyhan; S. Aramaki; J. A. Thompson; S. I. Goodman; D. A. Johnson; R. R. Fife

• Book ID: 104775510
• Publisher: Springer
• Year: 1988
• Tongue: English
• Weight: 270 KB
• Volume: 147
• Category: Article
• ISSN: 0340-6997
• DOI: 10.1007/bf00441983

✦ Synopsis

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.