4-Hydroxybutyric aciduria in a patient without ataxia or convulsions.
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.
Gibson
K M
KM
Department of Pediatrics, University of California, San Diego, La Jolla 92093.
Hoffmann
G
G
Nyhan
W L
WL
Aramaki
S
S
Thompson
J A
JA
Goodman
S I
SI
Johnson
D A
DA
Fife
R R
RR
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*
D006885:Hydroxybutyrates; D012978:Sodium Oxybate