Abstract
We report the successful treatment using low-dose vigabatrin (21.5-34 mg/kg/day) of a 10-year-old girl with succinic semialdehyde dehydrogenase (SSADH) deficiency We verified that 4-hydroxybutyric acid (GHB) concentrations in serum, cerebrospinal fluid, and urine continuously decreased in parallel with significant clinical improvement. Our results suggest that GHB quantification in physiological fluids may be a useful laboratory parameter for monitoring efficacy of vigabatrin treatment in SSADH deficiency.
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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Aldehyde Oxidoreductases / deficiency*
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Child
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Developmental Disabilities / etiology
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Enzyme Inhibitors / therapeutic use*
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Female
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Humans
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Hydroxybutyrates / analysis*
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Metabolism, Inborn Errors / drug therapy*
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Metabolism, Inborn Errors / physiopathology
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Succinate-Semialdehyde Dehydrogenase
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Treatment Outcome
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Vigabatrin / therapeutic use*
Substances
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Enzyme Inhibitors
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Hydroxybutyrates
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4-hydroxybutyric acid
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Aldehyde Oxidoreductases
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ALDH5A1 protein, human
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Succinate-Semialdehyde Dehydrogenase
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Vigabatrin