title: Taurine trial in succinic semialdehyde dehydrogenase deficiency and elevated CNS GABA.
abstract: OBJECTIVE
  The objective of this open-label study was primarily to assess the effect of taurine on adaptive behavior and secondarily to collect safety and tolerability data in patients with succinic semialdehyde dehydrogenase deficiency.
  
  
  METHODS
  In the current study, subjects were titrated weekly from a starting dose of 50 mg/kg/d to a target 200 mg/kg/d, and assessed for safety, tolerability, and adaptive functioning using age-normalized Adaptive Behavior Assessment Scales.
  
  
  RESULTS
  Eighteen patients (8 males/10 females, aged 0.5-28 years, mean 12 years) were recruited. Three subjects withdrew because of perceived lack of efficacy. One serious adverse event occurred (hospitalization for hypersomnia) on 16 g/d (200 mg/kg/d), leading to a dose-lowering paradigm with a maximum dose of 10 g/d. Results did not show clinically meaningful improvement in the adaptive domains after taurine therapy. Pre- and posttherapy adaptive scores also demonstrated no statistically significant difference (p > 0.18).
  
  
  CONCLUSIONS
  Adaptive behavior did not improve significantly with taurine intervention. Further therapeutic clinical trials including an on-off paradigm using biomarkers are planned.
  
  
  METHODS
  This study provides Class IV evidence that for patients with succinic semialdehyde dehydrogenase deficiency, taurine does not significantly improve adaptive behavior. The study is rated Class IV because of the absence of a control group.
authors: From the Departments of Child Neurology (P.L.P., J.S., E.S.B., J.Y.) and Biostatistics/Epidemiology (R.M., J.H.), Children's National Medical Center, Washington, DC; Clinical Epilepsy Branch (J.S., W.H.T., E.W.), NINDS, NIH, Bethesda, MD; and Clinical Pharmacology (K.M.G.), Washington State University, Spokane.
authors: Phillip L
authors: PL
authors: Pearl
authors: John
authors: J
authors: Schreiber
authors: William H
authors: WH
authors: Theodore
authors: Robert
authors: R
authors: McCarter
authors: Emily S
authors: ES
authors: Barrios
authors: Joe
authors: J
authors: Yu
authors: Edythe
authors: E
authors: Wiggs
authors: Jianping
authors: J
authors: He
authors: K Michael
authors: KM
authors: Gibson
mesh_terms: D000293:Adolescent; D000328:Adult; D000592:Amino Acid Metabolism, Inborn Errors / Q000473:pathology*; D002490:Central Nervous System / Q000378:metabolism*; D002648:Child; D002675:Child, Preschool; D002658:Developmental Disabilities; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D050644:Succinate-Semialdehyde Dehydrogenase / Q000172:deficiency* / Q000187:drug effects; D013654:Taurine / Q000627:therapeutic use*; D013997:Time Factors; D016896:Treatment Outcome; D055815:Young Adult; D005680:gamma-Aminobutyric Acid / Q000378:metabolism*
chemical_list: D013654:Taurine; D005680:gamma-Aminobutyric Acid; D050644:Succinate-Semialdehyde Dehydrogenase