title: 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.affiliation: Department of Pediatrics, University of California, San Diego, La Jolla 92093.
authors.forename: K M
authors.initials: KM
authors.lastname: Gibson
authors.forename: G
authors.initials: G
authors.lastname: Hoffmann
authors.forename: W L
authors.initials: WL
authors.lastname: Nyhan
authors.forename: S
authors.initials: S
authors.lastname: Aramaki
authors.forename: J A
authors.initials: JA
authors.lastname: Thompson
authors.forename: S I
authors.initials: SI
authors.lastname: Goodman
authors.forename: D A
authors.initials: DA
authors.lastname: Johnson
authors.forename: R R
authors.initials: RR
authors.lastname: Fife
mesh_terms: D001259:Ataxia / Q000209:etiology; D002648:Child; D005260:Female; D006801:Humans; D006885:Hydroxybutyrates / Q000652:urine*; D006948:Hyperkinesis / Q000209:etiology; D008607:Intellectual Disability / Q000209:etiology; D009123:Muscle Hypotonia / Q000209:etiology; D012640:Seizures / Q000209:etiology; D012978:Sodium Oxybate / Q000652:urine*
chemical_list: D006885:Hydroxybutyrates; D012978:Sodium Oxybate