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.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Ataxia / etiology
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Child
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Female
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Humans
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Hydroxybutyrates / urine*
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Hyperkinesis / etiology
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Intellectual Disability / etiology
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Muscle Hypotonia / etiology
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Seizures / etiology
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Sodium Oxybate / urine*
Substances
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Hydroxybutyrates
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Sodium Oxybate