Monitoring of 4-hydroxybutyric acid levels in body fluids during vigabatrin treatment in succinic semialdehyde dehydrogenase deficiency.
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.
Children's Hospital, University of Würzburg, Germany. katrin.ergezinger@allergieklinik.ch
Katrin
K
Ergezinger
Reinhard
R
Jeschke
Georg
G
Frauendienst-Egger
Herbert
H
Korall
K Michael
KM
Gibson
Volker H
VH
Schuster
D000445:Aldehyde Oxidoreductases / Q000172:deficiency*; D002648:Child; D002658:Developmental Disabilities / Q000209:etiology; D004791:Enzyme Inhibitors / Q000627:therapeutic use*; D005260:Female; D006801:Humans; D006885:Hydroxybutyrates / Q000032:analysis*; D008661:Metabolism, Inborn Errors / Q000188:drug therapy* / Q000503:physiopathology; D050644:Succinate-Semialdehyde Dehydrogenase; D016896:Treatment Outcome; D020888:Vigabatrin / Q000627:therapeutic use*
D004791:Enzyme Inhibitors; D006885:Hydroxybutyrates; C111420:4-hydroxybutyric acid; D000445:Aldehyde Oxidoreductases; C493643:ALDH5A1 protein, human; D050644:Succinate-Semialdehyde Dehydrogenase; D020888:Vigabatrin