4-Hydroxybutyric aciduria in a patient without ataxia or convulsions.
作者信息
Gibson K M, Hoffmann G, Nyhan W L, Aramaki S, Thompson J A, Goodman S I, Johnson D A, Fife R R
机构信息
Department of Pediatrics, University of California, San Diego, La Jolla 92093.
出版信息
Eur J Pediatr. 1988 Jun;147(5):529-31. doi: 10.1007/BF00441983.
PMID:3409929
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.
摘要
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