Clinical spectrum of succinic semialdehyde dehydrogenase deficiency

Neurology

Volumn 60, Issue 9, 2003, Pages 1413-1417

  Pearl, Phillip L ^a,e   Gibson, K M ^b   Acosta, M T ^a   Vezina, L G ^a   Theodore, W H ^c   Rogawski, M A ^c   Novotny, E J ^d   Gropman, A ^a   Conry, J A ^a   Berry, G T ^a   Tuchman, M ^a  

^a GEORGE WASHINGTON UNIVERSITY   (United States)

^b OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

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

^d YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^e CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

3 AMINOPROPYL(DIETHOXYMETHYL)PHOSPHINIC ACID; 4 AMINOBUTYRATE AMINOTRANSFERASE; 4 AMINOBUTYRIC ACID; 4 AMINOBUTYRIC ACID B RECEPTOR BLOCKING AGENT; 4 HYDROXYBUTYRIC ACID; NALOXONE; NCS 382; OPIATE ANTAGONIST; SUCCINATE SEMIALDEHYDE DEHYDROGENASE; SUCCINIC ACID; TAURINE; UNCLASSIFIED DRUG; VALPROIC ACID; VIGABATRIN;

ACIDURIA; ADOLESCENT; ADULT; AUTISM; AUTOSOMAL RECESSIVE DISORDER; CHILD; CLINICAL FEATURE; DRUG EFFECT; ELECTROENCEPHALOGRAPHY; ENZYME DEFICIENCY; FEMALE; GAS CHROMATOGRAPHY; HALLUCINATION; HUMAN; HYPOREFLEXIA; INFANT; ION PAIR CHROMATOGRAPHY; LANGUAGE DISABILITY; MAJOR CLINICAL STUDY; MALE; MASS SPECTROMETRY; MENTAL DEFICIENCY; MUSCLE HYPOTONIA; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; REVIEW; SCREENING TEST; SEIZURE; SUCCINATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY; URINALYSIS;

EID: 0038221058     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.WNL.0000059549.70717.80     Document Type: Review

References (26)

1. Gibson KM, Hoffmann GF, Hodson AK, et al. 4-Hydroxybutyric acid and the clinical phenotype of succinic semialdehyde dehydrogenase deficiency, an inborn error of GABA metabolism. Neuropediatrics 1998;29:14-22.
2. Jakobs C, Jaeken J, Gibson KM. Inherited disorders of GABA metabolism. J Inherit Metab Dis 1993;16:704-715.
3. Trettel F, Malaspina P, Jodice C, et al. Human succinic semialdehyde dehydrogenase: molecular cloning and chromosomal localization. Adv Exp Med Biol 1997;414:253-260.
4. Gibson KM, Jakobs C. Disorders of beta- and gamma amino acids in free and peptide-linked forms. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease, 8th ed. New York: McGraw-Hill, 2001:2079-2105.
5. Tuchman M, McCann MT, Johnson PE, Lemieux B. Screening newborns for multiple organic acidurias in dried filter paper urine samples: method development. Pediatr Res 1991;30:315-321.
6. Gibson KM, Goodman SI, Frerman FE, Glasgow AM. Succinic semialdehyde dehydrogenase deficiency associated with combined 4-hydroxybutyric and dicarboxylic acidurias: Potential for clinical misdiagnosis based on urinary organic acid profiling. J Pediatr 1989;114:607-610.
7. Roth RH, Giarman NJ. Gamma-butyrolactone and gamma hydroxybutyric acid. I. Distribution and metabolism. Biochem Pharmacol 1966;15:1333-1348.
8. Maitre M, Andriamampandry C, Kemmel V, et al. Gammahydroxybutyric acid as a signaling molecule in brain. Alcohol 2000;20:277-283.
9. Snead OC. Evidence for a G protein-coupled gamma-hydroxybutyric acid receptor. J Neurochem 2000;75:1986-1996.
10. Nicholson KL, Balster RL. GHB: a new and novel drug of abuse. Drug Alcohol Depend 2001;63:1-22.
11. Gibson KM, Christensen E, Jakobs C, et al. The clinical phenotype of SSADH deficiency: case reports of 23 new patients. Pediatrics 1997;99: 567-574.
12. Al-Essa MA, Bakheet SM, Patay ZJ, Powe JE, Ozand PT. Clinical, 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.
13. Onkenhout W, Maaswinkel-Mooij PD, Poorthuis BJ. 4-Hydroxybutyric aciduria: further clinical heterogeneity in a new case. Eur J Pediatr 1989;149:194-196.
14. Rahbeeni A, Ozand PT, Rashed M, et al. 4-Hydroxybutyric aciduria. Brain Dev 1994;16:S64-71.
15. Matern D, Lehnert W, Gibson KM, Korinthenberg R. Seizures in a boy with SSADH deficiency treated with vigabatrin (gamma-vinyl-GABA). J Inherit Metab Dis 1996;19:313-318.
16. Uziel G, Bardelli P, Pantaleoni C, Rimoldi M, Savoiardo M. 4-Hydroxybutryic aciduria: clinical findings and vigabatrin therapy. J Inherit Metab Dis 1993;16:520-522.
17. Yalcinkaya C, Gibson KM, Gunduz E, et al. MRI Findings in succinic semialdehyde dehydrogenase deficiency. Neuropediatrics 2000;31:45-46.
18. Ishiguro Y, Kajita M, Aoshima T, Watanabe K, Kimura M, Yamaguchi S. The first case of 4-hydroxybutyric aciduria in Japan. Brain Dev 2001;23:128-130.
19. Gibson KM, Sweetman L, Kozich V, et al. Unusual enzyme findings in five patients with metabolic profile suggestive of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria). J Inherit Metab Dis 1998;21:255-261.
20. Gibson KM, Schor DS, Gupta M, et al. Focal neurometabolic alterations in mice deficient for succinate semialdehyde dehydrogenase. J Neurochem 2002;81:71-79.
21. Ziyeh S, Berlis A, Korinthenberg R, Spreer J, Schumacher M. Selective involvement of the globus pallidus and dentate nucleus in succinic semialdehyde dehydrogenase activity. Pediatr Radiol 2002;32:598-600.
22. Gibson KM, Jakobs C, Ogier H, et al. Vigabatrin therapy in six patients with succinic semialdehyde dehydrogenase deficiency. J Inherit Metab Dis 1995;18:143-146.
23. Krauss GL, Johnson MA, Miller NR. Vigabatrin-associated retinal cone system dysfunction: electroretinogram and ophthalmologic findings. Neurology 1998;50:614-618.
24. Hogema BM, Gupta M, Senephansiri H, et al. Pharmacologic rescue of lethal seizures in mice deficient in succinate semialdehyde dehydrogenase. Nat Genet 2001;29:212-216.
25. Feigenbaum JJ, Howard SG. Naloxone reverses the inhibitory effect of gamma-hydroxybutyrate on central DA release in vivo in awake animals: a microdialysis study. Neurosci Lett 1997;224:71-74.
26. Bonham JR, Downing M, Pollitt RJ, et al. Quality assessment of urinary organic acid analysis. Ann Clin Biochem 1994;31:129-133.