REFERENCES
Barker SA, Snead OC, Poldrugo F, Liu C-C, Fish FP, Settine RL (1985) Identification and quantitation of 1,4–butanediol in mammalian tissues: an alternative biosynthetic pathway for gamma-hydroxybutyric acid. Biochem Pharmacol 34: 1849–1852.
Chambliss KL, Zhang Y-A, Rossier E, Vollmer B, Gibson KM (1995a) Enzymatic and immunologic identification of succinic semialdehyde dehydrogenase in rat and human neural and nonneural tissues. J Neurochem 65: 851–855.
Chambliss KL, Caudle DL, Hinson DD, et al (1995b) Molecular cloning of the mature NAD+-dependent succinic semialdehyde dehydrogenase from rat and human. cDNA isolation, evolutionary homology and tissue expression. J Biol Chem 270: 461–467.
Divry P, Baltassat P, Rolland MO, et al (1983) A new patient with 4–hydroxybutyric aciduria, a possible defect of 4–aminobutyrate metabolism. Clin Chim Acta 129: 303–309.
Gibson KM, Aramaki S, Sweetman L, et al (1990) Stable isotope dilution analysis of 4–hydroxybutyric acid: an accurate method for quantification in physiological Ñuids and the prenatal diagnosis of 4–hydroxybutyric aciduria. Biomed Environ Mass Spectrom 19: 89–93.
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 Inher Metab Dis 17: 732–737.
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.
Kappas A, Sassa S, Galbraith RA, Nordmann Y (1995) The porphyrias. In Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease, 7th edn. New York: McGraw-Hill, 2103–2159.
Kok RM, Howells DW, van der Heuvel CCM, Geurand WS, Thompson GN, Jakobs C (1993) Stable isotope dilution analysis of GABA in CSF using simple solvent extraction and electron capture negative ion mass fragmentography. J Inher Metab Dis 16: 508–512.
Pattarelli PP, Nyhan WL, Gibson KM (1988) Oxidation of [U14C]succinic semialdehyde in cultured human lymphoblasts: measurement of residual succinic semialdehyde dehydrogenase activity in 11 patients with 4–hydroxybutyric aciduria. Pediatr Res 24: 455–460.
Sweetman L (1991) Organic acid analysis. In Hommes FA, ed. Techniques in Diagnostic Human Biochemical Genetics. New York: Wiley-Liss, 143–176.
Trettel F, Malaspina P, Jodice C, et al (1996) Human succinic semialdehyde dehydrogenase: molecular cloning and chromosomal localization. Adv Exp Med Biol 414: 253–260.
Rights and permissions
About this article
Cite this article
Gibson, K.M., Sweetman, L., Kozich, V. et al. Unusual enzyme findings in five patients with metabolic profiles suggestive of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria). J Inherit Metab Dis 21, 255–261 (1998). https://doi.org/10.1023/A:1005368106563
Issue Date:
DOI: https://doi.org/10.1023/A:1005368106563