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

Brain and Development

Volumn 33, Issue 9, 2011, Pages 796-805

  Pearl, Phillip L ^a,b   Shukla, Lovy ^a   Theodore, William H ^b   Jakobs, Cornelis ^c   Michael Gibson, K ^d  

^a GEORGE WASHINGTON UNIVERSITY SCHOOL OF MEDICINE AND HEALTH SCIENCES   (United States)

^b NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^c VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^d MICHIGAN TECHNOLOGICAL UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

3 AMINOPROPYL(DIETHOXYMETHYL)PHOSPHINIC ACID; 3 AMINOPROPYLBUTYLPHOSPHINIC ACID; 4 AMINOBUTYRIC ACID; 4 AMINOBUTYRIC ACID A RECEPTOR; 4 AMINOBUTYRIC ACID A RECEPTOR BLOCKING AGENT; 4 AMINOBUTYRIC ACID B RECEPTOR; 4 AMINOBUTYRIC ACID B RECEPTOR BLOCKING AGENT; 4 HYDROXYBUTYRIC ACID; ANTICONVULSIVE AGENT; ANXIOLYTIC AGENT; ETHOSUXIMIDE; ETIRACETAM; FLUMAZENIL; LAMOTRIGINE; RADIOLIGAND; SEROTONIN UPTAKE INHIBITOR; SUCCINATE SEMIALDEHYDE DEHYDROGENASE; TAURINE; TOPIRAMATE; VIGABATRIN;

4 AMINOBUTYRIC ACID METABOLISM; ABSENCE OF SIDE EFFECTS; ANTICONVULSANT THERAPY; ARTICLE; CASE REPORT; CHILD; CLINICAL TRIAL (TOPIC); COMPETITIVE INHIBITION; DATA BASE; DISEASE ASSOCIATION; DISEASE MODEL; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; DRUG SAFETY; ELECTROCORTICOGRAPHY; ELECTROENCEPHALOGRAPHY; EPILEPSY; EPILEPTIC STATE; EXCITOTOXICITY; GENERALIZED EPILEPSY; GROWTH RETARDATION; HUMAN; INSOMNIA; LIGAND BINDING; MALE; MENTAL DEFICIENCY; MUSCLE HYPOTONIA; MYOCLONUS SEIZURE; NEUROIMAGING; NEUROTOXICITY; NEUROTRANSMISSION; NONHUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOPHYSIOLOGY; PHENOTYPE; POSITRON EMISSION TOMOGRAPHY; PRESCHOOL CHILD; RECEPTOR DOWN REGULATION; SUCCINATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY; SYNAPTIC POTENTIAL; TONIC CLONIC SEIZURE; TRANSCRANIAL MAGNETIC STIMULATION;

ANIMALS; BRAIN DISEASES, METABOLIC, INBORN; CHILD, PRESCHOOL; EPILEPSY; GAMMA-AMINOBUTYRIC ACID; HUMANS; MALE; MICE; MICE, KNOCKOUT; POSITRON-EMISSION TOMOGRAPHY; SUCCINATE-SEMIALDEHYDE DEHYDROGENASE;

EID: 80052474105     PISSN: 03877604     EISSN: 18727131     Source Type: Journal    
DOI: 10.1016/j.braindev.2011.04.013     Document Type: Article

References (35)

1. Pearl P.L., Gibson K.M., Acosta M.T., Vezina L.G., Theodore W.H., Rogawski M.A., et al. Clinical spectrum of succinic semialdehyde dehydrogenase deficiency. Neurology 2003, 60:1413-1417.
2. Cortez M.A., Wu Y., Gibson K.M., Snead O.C. Absence seizures in succinic semialdehyde dehydrogenase deficient mice. a model of juvenile absence epilepsy. Pharmacol Biochem Behav 2004, 79:547-553.
3. Knerr I., Gibson K.M., Jakobs C., Pearl P.L. Neuropsychiatric morbidity in adolescent and adult succinic semialdehyde dehydrogenase deficiency patients. CNS Spec 2008, 13:598-605.
4. Pearl P.L., Gibson K.M. Clinical aspects of the disorders of GABA metabolism in children. Curr Opin Neurol 2004, 17:107-113.
5. Pearl P.L., Capp P.K., Novotny E.J., Gibson K.M. Inherited disorders of neurotransmitters in children and adults. Clin Biochem 2005, 38:1051-1058.
6. Pearl PL, Jakobs C, Gibson KM. Disorders of beta- and gamma-amino acids in free and peptide-linked forms. In: Valle D, Beaudet A, Vogelstein B, Kinzler KW, Antonarakis SE, Ballabio A, editors. Online molecular and metabolic bases of inherited disease; 2007 [online:] http://www.ommbid.com.
7. Dervent A., Gibson K.M., Pearl P.L., Salomons G.S., Jakobs C., Yalcinkaya C. Photosensitive absence epilepsy with myoclonia and heterozygosity for succinic semialdehyde dehydrogenase (SSADH) deficiency. Clin Neurophysiol 2004, 115:1417-1422.
8. Pearl P.L., Shamin S., Theodore W.H., Gibson K.M., Forester K., Combs S.E., et al. Polysomnographic abnormalities in succinic semialdehyde dehydrogenase (SSADH) deficiency. Sleep 2009, 32:1645-1648.
9. Buzzi A., Wu Y., Frantseva M.V., Velazquez J.L.P., Cortez M.A., Liu C., et al. Succinic semialdehyde dehydrogenase deficiency: GABAB receptor-mediated function. Brain Res 2006, 1090:15-22.
10. Yalçinkaya C., Gibson K.M., Gündüz E., Koçer N., Fiçicioĝlu C., Küçükercan I. MRI findings in succinic semialdehyde dehydrogenase deficiency. Neuropediatrics 2000, 31:45-46.
11. Ziyeh S., Berlis A., Korinthenberg R., Spreer J., Schumacher M. Selective involvement of the globus pallidus and dentate nucleus in succinic semialdehyde dehydrogenase deficiency. Pediatr Radiol 2002, 32:598-600.
12. Escalera G.I., Ferrer I., Marina L.C., Sala P.R., Salomons G.S., Jakobs C., et al. Succinic semialdehyde dehydrogenase deficiency: decrease in 4-OH-butyric acid levels with low doses of vigabatrin. An Pediatr (Barc) 2010, 72:128-132.
13. Pearl P.L., Gropman A. Monitoring gamma-hydroxybutyric acid levels in succinate-semialdehyde dehydrogenase deficiency. Ann Neurol 2004, 55:599.
14. Al-Essa M.A., Bakheet S.M., Patay Z.J., Powe J.E., Ozand P.T. Clinical, fluorine-18 labeled 2-fluoro-2-deoxyglucose positron emission tomography (FDG PET), MRI of the brain and biochemical observations in a patient with 4-hydroxybutyric aciduria; a progressive neurometabolic disease. Brain Dev 2000, 22:127-131.
15. Knerr I., Gibson K.M., Murdoch G., Salomons G.S., Jakobs C., Combs S., et al. Neuropathology in succinic semialdehyde dehydrogenase deficiency. Pediatr Neurol 2010, 42:255-258.
16. Gibson K.M., Schor D.S., Gupta M., Guerand W.S., Senephansiri H., Burlingame T.G., et al. Focal neurometabolic alterations in mice deficient for succinate semialdehyde dehydrogenase. J Neurochem 2002, 81:71-79.
17. Pearl P.L., Novotny E.J., Acosta M.T., Jakobs C., Gibson K.M. Succinic semialdehyde dehydrogenase deficiency in children and adults. Ann Neurol 2003, 54:S73-S80.
18. Chang B.S., Lowenstein D.H. Epilepsy. N Engl J Med 2003, 349:1257-1266.
19. Pearl P.L., Gibson K.M., Quezado Z., Dustin I., Taylor J., Trzcinski S., et al. Decreased GABA-A binding on FMZ-PET in succinic semialdehyde dehydrogenase deficiency. Neurology 2009, 73:423-429.
20. Pearl P.L., Gibson K.M., Cortez M.A., Wu Y., Carter Snead O., Knerr I., et al. Succinic semialdehyde dehydrogenase deficiency: Lessons from mice and men. J Inherit Metab Dis 2009, 32:343-352.
21. Snead O.C. The gamma-hydroxybutyrate model of absence seizures: correlation of regional brain levels of gamma-hydroxybutyric acid and gamma-butyrolactone with spike wave discharges. Neuropharmacology 1991, 30:161-167.
22. Gupta M., Polinsky M., Senephansiri H., Snead O.C., Jansen E.E., Jakobs C., et al. Seizure evolution and amino acid imbalances in murine succinate semialdehyde dehydrogenase (SSADH) deficiency. Neurobiol Dis 2004, 16:556-562.
23. Drasbek K.R., Vardya I., Delenclos M., Gibson K.M., Jensen K. SSADH deficiency leads to elevated extracellular GABA levels and increased GABAergic neurotransmission in the mouse cerebral cortex. J Inherit Metab Dis 2008, 31:662-668.
24. Wu Y., Buzzi A., Frantseva M., Velazquez J.P., Cortez M., Liu C., et al. Status epilepticus in mice deficient for succinate semialdehyde dehydrogenase: GABAA receptor-mediated mechanisms. Ann Neurol 2006, 59:42-52.
25. Bishnoi M., Chopra K., Kulkarni S.K. Progesterone attenuates neuroleptic-induced orofacial dyskinesia via the activity of its metabolite, allopregnanolone, a positive GABA(A) modulating neurosteroid. Prog Neuropsychopharmacol Biol Pychiatry 2008, 32:451-461.
26. Shinka T., Ohfu M., Hirose S., Kuhara T. Effect of valproic acid on the urinary metabolic profile of a patient with succinic semialdehyde dehydrogenase deficiency. J Chromatogr B Analyt Technol Biomed Life Sci 2003, 792:99-106.
27. Leuzzi V., Di Sabato M.L., Deodato F., Rizzo C., Boenzi S., Carducci C., et al. Vigabatrin improves paroxysmal dystonia in succinic semialdehyde dehydrogenase deficiency. Neurology 2007, 68:1320-1321.
28. Krauss G.L., Johnson M.A., Miller N.R. Vigabatrin-associated retinal cone system dysfunction: electroretinogram and ophthalmologic findings. Neurology 1998, 50:614-618.
29. Spence S.J., Sankar R. Visual field defects and other ophthalmological disturbances associated with vigabatrin. Drug Saf 2001, 24:385-404.
30. Vanhatalo S., Nousiainen I., Eriksson K., Rantala H., Vainionpaa L., Mustonen K., et al. Visual field constriction in 91 Finnish children treated with vigabatrin. Epilepsia 2002, 43:748-756.
31. Ergezinger K., Jeschke R., Frauendienst-Egger G., Korall H., Gibson K.M., Schuster V.H. Monitoring of 4-hydroxybutyric acid levels in body fluids during vigabatrin treatment in succinic semialdehyde dehydrogenase deficiency. Ann Neurol 2003, 54:686-689.
32. Gupta M., Greven R., Jansen E.E., Jakobs C., Hogema B.M., Froestl W., et al. Therapeutic intervention in mice deficient for succinate semialdehyde dehydrogenase (gamma-hydroxybutiric aciduria). J Pharmacol Exp Ther 2002, 302:180-187.
33. Saronwala A, Tournay A, Gargus JJ. Taurine treatment of succinate semialdehyde dehydrogenase (SSADH) deficiency reverses MRI-documented globus lesions and clinical syndrome. Am Coll Med Genet. In: 15th Ann Clinical Genet Meeting March 12-16 2008, Phoenix AZ USA. p. 103 [abstract].
34. Hogema B.M., Gupta M., Senephansiri H., Burlingame T.G., Taylor M., Jakobs C., et al. Pharmacologic rescue of lethal seizures in mice deficient in succinate semialdehye dehydrogenase. Nat Genet 2001, 29:212-216.
35. Froestl W., Gallagher M., Jenkins H., Madrid A., Melcher T., Teichman S., et al. SGS742: the first GABA(B) receptor antagonist in clinical trials. Biochem Pharmacol 2004, 68:1479-1487.