ISSN:
1432-1076
Keywords:
4-Hydroxybutyric aciduria
;
Succinic semialdehyde dehydrogenase deficiency
;
Aminobutyric acid (GABA) metabolism
;
Hyperactivity
;
Hypotonia
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
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.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF00441983
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