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

JIMD Reports

Volumn 2, Issue , 2012, Pages 119-123

  Casarano, M ^a,b   Alessandri M G ^a   Salomons, G S ^c   Moretti, E ^a   Jakobs, C ^c   Gibson, K M ^d   Cioni, G ^a,b   Battini, R ^a  

^a DEPARTMENT OF DEVELOPMENTAL NEUROSCIENCE   (Italy)

^b UNIVERSITY OF PISA   (Italy)

^c VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^d MICHIGAN TECHNOLOGICAL UNIVERSITY   (United States)

Author keywords

Cerebellar dentate nucleus; Gaba transaminase; Gyrate atrophy; Peabody picture vocabulary test; Succinic semialdehyde

Indexed keywords

EID: 84976300872     PISSN: 21928304     EISSN: 21928312     Source Type: Book Series    
DOI: 10.1007/8904_2011_60     Document Type: Chapter

References (31)

1. Akaboshi S, Hogema BM, Novelletto A et al (2003) Mutational spectrum of the succinic semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency. Hum Mutat 22:442–450
2. Blasi P, Boyl PP, Ledda M et al (2002) Structure of human succinic semialdehyde dehydrogenase gene: identification of promoter region and alternatively processed isoforms. Mol Genet Metab 76:348–362
3. Caselli MC, Casadio P (1995) Il primo vocabolario del bambino: guida all’uso del questionario Mac Arthur per la valutazione della comunicazione e del linguaggio nei primi anni di vita. Franco Angeli, Milano
4. Di Rosa G, Malaspina P, Blasi P et al (2009) Visual evoked potentials in succinate semialdehyde dehydrogenase (SSADH) deficiency. J Inherit Metab Dis DOI 10.1007/S10545-009-1154-4
5. Dunn LM, Dunn LM (1997) Peabody Picture Vocabulary Test-PPVT – 3rd Edition. Minneapolis (MN). American Guidance Service. Italian adaptation: stella G, Pizzoli C, Tressoldi P (2000) PPVT-revised. Torino: Omega Edition
6. Ergezinger K, Jeschke R, Frauendienst-Egger G, Korall H, Gibson KM, Schuster VH (2003) Monitoring of 4-Hydroxybutyric acid levels in body fluids during Vigabatrin treatment in succinic semialdehyde dehydrogenase deficiency. Ann Neurol 54:686–689
7. Ethofer T, Seeger U, Klose U et al (2004) Proton MR spectroscopy in succinic semialdehyde dehydrogenase deficiency. Neurology 62:1016–1018
8. Gibson KM, Jakobs C (2001) Disorders of beta-and gamma-aminoacids in free and peptide-linked forms. In: Scriver CR, Beaudet AL, Valle D, Sly WS (eds) The metabolic basis of inherited disease, 8th edn. McGraw-Hill, New York, pp 2079–2105
9. Gibson KM, De Vivo DC, Jakobs C (1989) Vigabatrin therapy in patients with succinic semialdehyde dehydrogenase deficiency. Lancet 2:1105–1106
10. Gibson KM, Lee CF, Chambliss KL, Kamali V, Francois B, Jaeken J, Jakobs C (1991) 4-Hydroxybutyric aciduria: application of a fluorometric assay to the determination of succinic semialdehyde dehydrogenase activity in extracts of cultured human lymphoblasts. Clin Chim Acta 196:219–221
11. Gibson KM, Baumann C, Ogier H, Rossier E, Vollmer B, Jakobs C (1994) Pre-and postnatal diagnosis of succinic semialdehyde dehydrogenase deficiency using enzyme and metabolite assays. J Inherit Metab Dis 17:732–737
12. Gibson KM, Jakobs C, Ogier H et al (1995) Vigabatrin therapy in six patients with succinic semialdehyde dehydrogenase deficiency. J Inherit Metab Dis 18:143–146
13. Gibson KM, Christensen E, Jakobs C et al (1997) The clinical phenotype of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria): case reports of 23 new patients. Pediatrics 99:567–574
14. Gibson KM, Hoffmann GF, Hodson AK, Bottiglieri T, Jakobs C (1998) 4-Hydroxybutyric acid and tha clinical phenotype of succinic semialdehyde dehydrogenase deficiency, an inborn error of GABA metabolism. Neuropediatrics 29(1):14–22
15. Gordon N (2004) Succinic semialdehyde dehydrogenase deficiency (SSADH) (4-hydroxybutyric aciduria, gamma-hydroxybutyric aciduria). Eur J Paediatr Neurol 8(5):261–265
16. Gropman A (2003) Vigabatrin and newer interventions in succinic semialdehyde dehydrogenase deficiency. Ann Neurol 54(suppl 6): S66–S72
17. Jaeken J, Casaer P, deCock P, Francois B (1989) Vigabatrin in GABA metabolism disorders. Lancet 1:1074
18. Jakobs C, Bojasch M, Monch E, Rating D, Siemes H, Hanefeld F (1981) Urinary excretion of gamma-hydroxybutyric acid in a patient with neurological abnormalities. The probability of a new inborn error of metabolism. Clin Chim Acta 111:169–178
19. Kim KJ, Pearl PL, Jensen K, Snead OC, Malaspina P, Jakobs C, Gibson KM (2010) Succinic semialdehyde dehydrogenase (SSADH): biochemical-molecular-clinical disease mechanism, redox regulation and functional significance. Antioxid Redox Signal 15(3):691–718
20. -I-mice and characterization of gamma-hydrox-ybutiric acid pharmacology. J Inherit Metab Dis 30:279–294
21. Leiter RG (1997) International Performance Scales (LIPS) Wood Dale (IL): Stoelting Co. Italian Translation (2002) OS Firenze
22. Leuzzi V, Di Sabato ML, Deodato F et al (2007) Vigabatrin improves paroxysmal distonia in succinic semialdehyde dehydrogenase deficiency. Neurology 68:1320–1321
23. Matern D, Lenhert W, Gibson KM, Korinthenberg R (1996) Seizures in a boy with succinic semialdehyde dehydrogenase deficiency treated with Vigabatrin (Gamma-Vinil-GABA). J Inherit Metab Dis 19:313–328
24. Ohkubo Y, Ueta A, Ito T et al (2005) Vitamin B6-responsive ornithine aminotransferase deficiency with a novel mutation G237D. J Exp Med 205:335–342
25. Pearl PL, Novotny EJ, Acosta MT, Jakobs C, Gibson KM (2003) Succinic semialdehyde dehydrogenase deficiency in children and adults. Ann Neurol 54(suppl 6):S73–S80
26. Roubertie A, Bellet H, Echenne B (1998) Vigabatrin-associated retinal cone dysfunction. Neurology 51:1779
27. Rustioni D (1994) Prove di valutazione della Comprensione linguis-tica. O.S. Eds, Firenze
28. Sorri I, Mitchell GB, Miklos M, Mahlamaki E, de Meynard C, Kalviainen R (2010) Is reduced ornithine-δ-aminotranspherase activity the cause of vigabatrin-associated visual field defects? Epilepsy Res 92:48–53
29. Trettel F, Malaspina P, Jodice C et al (1997) Human succinic semialdehyde dehydrogenase molecular cloning and chromosomal localization. Adv Exp Med Biol 414:256–260
30. Wang T, Steel G, Milam AH, Valle D (2000) Correction of ornithine accumulation prevents retinal degeneration in a mouse model of gyrate atrophy of choroid and retina. Proc Natl Acad Sci USA 97:1224–1229
31. Ziyeh S, Berlis A, Korinthenberg R, Spreer J, Schumacher M (2002) Selective involvement of the globus pallidus and dentate nucleus in succinic semialdehyde dehydrogenase deficiency. Pediatr Radiol 32:598–600