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Unusual enzyme findings in five patients with metabolic profiles suggestive of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria)

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Journal of Inherited Metabolic Disease

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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.

    Google Scholar 

  • 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.

    Google Scholar 

  • 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.

    Google Scholar 

  • 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.

    Google Scholar 

  • 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.

    Google Scholar 

  • 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.

    Google Scholar 

  • 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.

    Google Scholar 

  • 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.

    Google Scholar 

  • 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.

    Google Scholar 

  • 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.

    Google Scholar 

  • Sweetman L (1991) Organic acid analysis. In Hommes FA, ed. Techniques in Diagnostic Human Biochemical Genetics. New York: Wiley-Liss, 143–176.

    Google Scholar 

  • 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.

    Google Scholar 

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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

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