Monitoring of 4‐hydroxybutyric acid levels in body fluids during vigabatrin treatment in succinic semialdehyde dehydrogenase deficiency
- 22 October 2003
- journal article
- case report
- Published by Wiley in Annals of Neurology
- Vol. 54 (5) , 686-689
- https://doi.org/10.1002/ana.10752
Abstract
We report the successful treatment using low‐dose vigabatrin (21.5–34mg/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. Ann Neurol 2003;54:686–689Keywords
This publication has 15 references indexed in Scilit:
- Pharmacologic rescue of lethal seizures in mice deficient in succinate semialdehyde dehydrogenaseNature Genetics, 2001
- Two Exon-Skipping Mutations as the Molecular Basis of Succinic Semialdehyde Dehydrogenase Deficiency (4-Hydroxybutyric Aciduria)American Journal of Human Genetics, 1998
- 4-Hydroxybutyric Acid and the Clinical Phenotype of Succinic Semialdehyde Dehydrogenase Deficiency, an Inborn Error of GABA MetabolismNeuropediatrics, 1998
- The Clinical Phenotype of Succinic Semialdehyde Dehydrogenase Deficiency (4-Hydroxybutyric Aciduria): Case Reports of 23 New PatientsPediatrics, 1997
- Human Succinic Semialdehyde DehydrogenasePublished by Springer Nature ,1996
- Vigabatrin therapy in six patients with succinic semialdehyde dehydrogenase deficiencyJournal of Inherited Metabolic Disease, 1995
- Pre‐ and postnatal diagnosis of succinic semialdehyde dehydrogenase deficiency using enzyme and metabolite assaysJournal of Inherited Metabolic Disease, 1994
- VIGABATRIN IN GABA METABOLISM DISORDERSThe Lancet, 1989
- Urinary excretion of gamma-hydroxybutyric acid in a patient with neurological abnormalities. The probability of a new inborn error of metabolismClinica Chimica Acta; International Journal of Clinical Chemistry, 1981
- Brain Succinic Semialdehyde DehydrogenasePublished by Springer Nature ,1979