4-Hydroxybutyric aciduria in a patient without ataxia or convulsions.

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.

• Authors: K M Gibson, G Hoffmann, W L Nyhan, S Aramaki, J A Thompson, S I Goodman, D A Johnson, R R Fife
• Journal: European journal of pediatrics (Eur J Pediatr) Vol. 147 Issue 5 Pg. 529-31 (Jun 1988) ISSN: 0340-6199 [Print] Germany
• PMID: 3409929 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)

Chemical References

• Hydroxybutyrates
• Sodium Oxybate

Topics

• Ataxia (etiology)
• Child
• Female
• Humans
• Hydroxybutyrates (urine)
• Hyperkinesis (etiology)
• Intellectual Disability (etiology)
• Muscle Hypotonia (etiology)
• Seizures (etiology)
• Sodium Oxybate (urine)