'Succinic semialdehyde dehydrogenase deficiency: Phenotype evolution in an adolescent patient at 20-year follow-up'

Developmental Medicine and Child Neurology

Volumn 50, Issue 11, 2008, Pages 880-881

  Crutchfield, Susan R ^a   Haas, Richard H ^a,b   Nyhan, William L ^a,b   Gibson, K Michael ^c  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

4 AMINOBUTYRIC ACID; SUCCINATE SEMIALDEHYDE DEHYDROGENASE;

ADULT; ATHETOSIS; ATTENTION DEFICIT DISORDER; CASE REPORT; COMPULSION; DEPRESSION; ENZYME DEFICIENCY; FACIES; FEMALE; GAIT; HUMAN; HYPERACTIVITY; LANGUAGE DISABILITY; LETTER; LEUKOCYTE; MOTOR DYSFUNCTION; MUSCLE HYPOTONIA; OPTOKINETIC NYSTAGMUS; PHENOTYPE; PRIORITY JOURNAL; SUCCINATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY;

ADULT; ATTENTION DEFICIT DISORDER WITH HYPERACTIVITY; BRAIN DISEASES, METABOLIC; FEMALE; FOLLOW-UP STUDIES; HUMANS; PHENOTYPE; SUCCINATE-SEMIALDEHYDE DEHYDROGENASE;

EID: 54249107239     PISSN: 00121622     EISSN: 14698749     Source Type: Journal    
DOI: 10.1111/j.1469-8749.2008.03116.x     Document Type: Letter

References (11)

1. Gibson KM, Jakobs C, Pearl PL, Snead OC. Murine succinate semialdehyde dehydrogenase (SSADH) deficiency, a heritable disorder of GABA metabolism with epileptic phenotype. IUBMB Life 2005; 57: 639-44.
2. Pearl PL, Taylor JL, Trzcinski S, Sokohl A. The pediatric neurotransmitter disorders. J Child Neurol 2007; 22: 606-16.
3. Buzzi A, Wu Y, Frantseva MV, et al. Succinic semialdehyde dehydrogenase deficiency: GABAB receptor-mediated function. Brain Res 2006; 1090: 15-22.
4. Pearl P, Taylor J, Trzcinski S, et al. 11C Flumanzenil PET imaging in patients with SSADH deficiency. Brain (Forthcoming).
5. Reis J, Cohen L, Pearl P, et al. Transcranial magnetic stimulation reveals altered cortical excitability in succinic semialdehyde dehydrogenase deficiency. Epilepsia (Forthcoming).
6. Wu Y, Buzzi A, Frantseva M, et al. Status epilepticus in mice deficient for succinate semialdehyde dehyrogenase: GABAA receptor-mediated mechanisms. Ann Neurol 2006; 59: 42-52.
7. Jansen EEW, Struys EA, Jakobs C, et al. Neurotransmitter alterations in embryonic succinate semialdehyde dehydrogenase (SSADH) deficiency suggest a heightened excitatory state during development. J Inherit Metab Dis 2008; 31 (Suppl. 1): 137.
8. Mehta AK, Gould GG, Gupta M, et al. Succinate semialdehyde dehydrogenase deficiency does not down-regulate gamma-hydroxybutyric acid binding sites in the mouse brain. Mol Genet Metab 2006; 88: 86-9.
9. Gibson KM, Hoffmann G, Nyhan WL. 4-Hydroxybutyric aciduria in a patient without ataxia or convulsions. Eur J Pediatr 1988; 147: 529-31.
10. -/- mice and characterization of gamma-hydroxybutyric acid pharmacology. J Inherit Metab Dis 2007; 30: 279-94.
11. Knerr I, Gibson KM, Jakobs C, Pearl PL. Neuropsychiatric morbidity in adolescent and adult succinic semialdehyde dehydrogenase deficiency patients. CNS Spectr 2008; 13: 598-605.