Literature DB >> 14595661

Monitoring of 4-hydroxybutyric acid levels in body fluids during vigabatrin treatment in succinic semialdehyde dehydrogenase deficiency.

Katrin Ergezinger1, Reinhard Jeschke, Georg Frauendienst-Egger, Herbert Korall, K Michael Gibson, Volker H Schuster.   

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.

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Year:  2003        PMID： 14595661     DOI： 10.1002/ana.10752

Source DB:  PubMed          Journal:  Ann Neurol        ISSN： 0364-5134            Impact factor:   10.422


  15 in total

Review 1.  Succinic semialdehyde dehydrogenase: biochemical-molecular-clinical disease mechanisms, redox regulation, and functional significance.

Authors:  Kyung-Jin Kim; Phillip L Pearl; Kimmo Jensen; O Carter Snead; Patrizia Malaspina; Cornelis Jakobs; K Michael Gibson
Journal:  Antioxid Redox Signal       Date:  2011-04-10       Impact factor: 8.401

Review 2.  Thirty years beyond discovery--clinical trials in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism.

Authors:  Kara R Vogel; Phillip L Pearl; William H Theodore; Robert C McCarter; Cornelis Jakobs; K Michael Gibson
Journal:  J Inherit Metab Dis       Date:  2012-06-28       Impact factor: 4.982

3.  Therapeutic efficacy of magnesium valproate in succinic semialdehyde dehydrogenase deficiency.

Authors:  Elena Vanadia; K Michael Gibson; Phillip L Pearl; Emanuele Trapolino; Salvatore Mangano; Francesca Vanadia
Journal:  JIMD Rep       Date:  2012-08-22

4.  Efficacy of vigabatrin intervention in a mild phenotypic expression of succinic semialdehyde dehydrogenase deficiency.

Authors:  M Casarano; M G Alessandrì; G S Salomons; E Moretti; C Jakobs; K M Gibson; G Cioni; R Battini
Journal:  JIMD Rep       Date:  2011-09-06

5.  Epilepsy in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism.

Authors:  Phillip L Pearl; Lovy Shukla; William H Theodore; Cornelis Jakobs; K Michael Gibson
Journal:  Brain Dev       Date:  2011-06-12       Impact factor: 1.961

6.  Diagnosis and treatment of neurotransmitter disorders.

Authors:  Phillip L Pearl; Thomas R Hartka; Jacob Taylor
Journal:  Curr Treat Options Neurol       Date:  2006-11       Impact factor: 3.598

Review 7.  Inherited disorders of gamma-aminobutyric acid metabolism and advances in ALDH5A1 mutation identification.

Authors:  Phillip L Pearl; Mahsa Parviz; Kara Vogel; John Schreiber; William H Theodore; K Michael Gibson
Journal:  Dev Med Child Neurol       Date:  2014-12-29       Impact factor: 5.449

Review 8.  Succinic semialdehyde dehydrogenase deficiency: lessons from mice and men.

Authors:  P L Pearl; K M Gibson; M A Cortez; Y Wu; O Carter Snead; I Knerr; K Forester; J M Pettiford; C Jakobs; W H Theodore
Journal:  J Inherit Metab Dis       Date:  2009-01-28       Impact factor: 4.982

9.  Therapeutic concepts in succinate semialdehyde dehydrogenase (SSADH; ALDH5a1) deficiency (gamma-hydroxybutyric aciduria). Hypotheses evolved from 25 years of patient evaluation, studies in Aldh5a1-/- mice and characterization of gamma-hydroxybutyric acid pharmacology.

Authors:  I Knerr; P L Pearl; T Bottiglieri; O Carter Snead; C Jakobs; K M Gibson
Journal:  J Inherit Metab Dis       Date:  2007-04-24       Impact factor: 4.982

10.  Neuropsychiatric morbidity in adolescent and adult succinic semialdehyde dehydrogenase deficiency patients.

Authors:  Ina Knerr; K Michael Gibson; Cornelis Jakobs; Phillip L Pearl
Journal:  CNS Spectr       Date:  2008-07       Impact factor: 3.790
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