The clinical phenotype of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria): Case reports of 23 new patients

Pediatrics

Volumn 99, Issue 4, 1997, Pages 567-574

  Gibson, K Michael ^a   Christensen, Ernst ^b   Jakobs, Cornelis ^c   Fowler, Brian ^d   Clarke, Michael A ^e   Hammersen, Gerhard ^f   Raab, Klaus ^f   Kobori, Joyce ^g   Moosa, Allie ^h   Vollmer, Brigitte ⁱ   Rossier, Eva ⁱ   Iafolla, A Kimberly ^j   Matern, Dietrich ^k   Brouwer, Oebele F ^l   Finkelstein, Janice ^m   Aksu, Fuat ⁿ   Weber, Hans Peter ^o   Bakkeren, Jan A J M ^p   Gabreels, Fons J M ^p   Bluestone, Daniel ^q   Barron, Todd F ^r   Beauvais, Pierre ^s   Rabier, Daniel ^t   Santos, Cesar ^u   Umansky, Richard ^v   Lehnert, Willy ^k   more..

^a BAYLOR UNIVERSITY MEDICAL CENTER   (United States)

^b UNIVERSITY OF COPENHAGEN   (Denmark)

^c VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^d UNIVERSITY OF BASEL   (Switzerland)

^e UNIVERSITY OF MANCHESTER   (United Kingdom)

^f Department of Pediatric Surgery   (Germany)

^g STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^h KUWAIT UNIVERSITY   (Kuwait)

ⁱ UNIVERSITY OF TÜBINGEN   (Germany)

^j DUKE UNIVERSITY MEDICAL CENTER   (United States)

^k UNIVERSITY OF FREIBURG   (Germany)

^l LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^m JOHNS HOPKINS HOSPITAL   (United States)

ⁿ UNIVERSITY OF WITTEN HERDECKE   (Germany)

^o Children's Hospital   (Germany)

^p RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^q UNIVERSITY OF CALIFORNIA   (United States)

^r PENN STATE COLLEGE OF MEDICINE   (United States)

^s ARMAND TROUSSEAU HOSPITAL   (France)

^t HÔPITAL NECKER ENFANTS MALADES   (France)

^u WAKE FOREST SCHOOL OF MEDICINE   (United States)

^v CHILDREN S HOSPITAL OAKLAND   (United States)

more..

Author keywords

4 hydroxybutyric aciduria; ataxia; hypotonia; mental retardation; succinic semialdehyde dehydrogenase deficiency

Indexed keywords

4 HYDROXYBUTYRIC ACID; ANTICONVULSIVE AGENT; CARBAMAZEPINE; ETHOSUXIMIDE; HALOPERIDOL; PRIMIDONE; SUCCINATE SEMIALDEHYDE DEHYDROGENASE; VALPROIC ACID; VIGABATRIN;

ADOLESCENT; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; DIFFERENTIAL DIAGNOSIS; ENZYME ACTIVITY; ENZYME DEFICIENCY; FEMALE; HUMAN; INBORN ERROR OF METABOLISM; INFANT; MALE; MENTAL DEFICIENCY; MUSCLE HYPOTONIA; NEUROLOGICAL COMPLICATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRIORITY JOURNAL; PSYCHOSIS; SEIZURE;

EID: 0030977833     PISSN: 00314005     EISSN: None     Source Type: Journal    
DOI: 10.1542/peds.99.4.567     Document Type: Article

References (9)

1. Scriver CR, Gibson KM. Disorders of β-and γ-amino acids in free and peptide-linked forms. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Basis of Inherited Disease, 7th ed. New York, NY: McGraw-Hill; 1995:1349-1368
2. Jakobs C, Jaeken J, Gibson KM. Inherited disorders of GABA metabolism. J Inherited Metab Dis. 1993;16:704-715
3. Snead OC. Gamma hydroxybutyrate in the monkey: electroencephalographic, behavioral, and pharmacokineric studies. Neurology. 1978;28: 636-642
4. Brown GK, Cromby CH, Manning NJ, Pollitt RJ. Urinary organic acids in succinic semialdehyde dehydrogenase deficiency: evidence of α-oxidation of 4-hydroxybutyric acid, interaction of succinic semialdehyde with pyruvate dehydrogenase and possible secondary inhibition of mitochondrial β-oxidation. J Inherited Metab Dis. 1987;10:367-375
5. 14C)succinic semialdehyde in cultured human lymphoblasts: measurement of residual succinic semialdehyde dehydrogenase activity in 11 patients with 4-hydroxybutyric aciduria. Pediatr Res. 1988;24:455-460
6. Matern D, Lehnert W, Gibson KM, Korinthenberg R. Seizures in a boy with succinic semialdehyde dehydrogenase deficiency treated with vigabatrin (γ-vinyl-GABA). J Inherited Metab Dis. 1996;19:313-318
7. Trettel F, Malaspina P, Jodice C, et al. Human succinic semialdehyde dehydrogenase: molecular cloning and chromosomal localization. In: Weiner H, ed. Enzymology and Molecular Biology of Carbonyl Metabolism. 6th ed. New York, NY: Plenum Publishing Corp. In press
8. Howells D, Jakobs C, Kok RM, Wrennall J, Thompson GN. Vigabatrin therapy in succinic semialdehyde dehydrogenase deficiency. Mol Neuropharmacol. 1992;2:181-184
9. Jakobs C, Smit LME, Kneer J, Michael T, Gibson KM. The first adult case with 4-hydroxybutyric aciduria. J Inherited Metab Dis. 1990;13:341-344