4-Hydroxybutyric aciduria in a patient without ataxia or convulsions
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A child presenting with mild psychomotor retardation, hypotonia, microcephaly and hyperkinesis is described. Urinary organic acid analysis by combined gas chromatography-mass spectrometry revealed 4-hydroxybutyric aciduria. Succinic semialdehyde dehydrogenase activity in extracts of white cells derived from the patient was less than 10% of control values.
Key words4-Hydroxybutyric aciduria Succinic semialdehyde dehydrogenase deficiency Aminobutyric acid (GABA) metabolism Hyperactivity Hypotonia
gamma aminobutyric acid
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- 1.Fell V, Lee CR, Pollitt RJ (1975) The occurrence of (S)-3,4-Dihydroxy-butyrate in human blood and urine. Biochem Med 13:40–45Google Scholar
- 2.Gibson KM, Jansen I, Sweetman L, Nyhan WL, Rating D, Jakobs C, Divry P (1984) 4-Hydroxybutyric aciduria: a new inborn error of metabolism. III. Enzymology and inheritance. J Inherited Metab Dis [Suppl 1] 7:95–96Google Scholar
- 3.Haan EA, Brown GK, Mitchell D, Danks DM (1985) Succinic semialdehyde dehydrogenase deficiency — a further case. J Inherited Metab Dis 8:99Google Scholar
- 4.Hoffmann G, Sweetman L (1987) 0-(2,3,4,5,6-Pentafluorobenzyl) Oxime-trimethylsilyl ester derivatives for quantitative gas chromatographic and gas chromatographic-mass spectrometric studies of aldehydes, ketones, and oxoacids. J Chromatogr 421:336–343Google Scholar
- 5.Jakobs C, Kneer J, Rating D, Hanefeld F, Divry P, Hermier M (1984) 4-Hydroxybutyric aciduria: a new inborn error of metabolism. II. Biochemical Findings. J Inherited Metab Dis [Suppl 1] 7: 92–94Google Scholar
- 6.Lee CR (1977) Evidence for the β-oxidation of orally administered 4-hydroxybutyrate in humans. Biochem Med 17:284–291Google Scholar
- 7.Rating D, Hanefeld F, Siemes H, Kneer J, Jakobs C, Hermier M, Divry P (1984) 4-Hydroxybutyric aciduria: A new inborn error of metabolism. I. Clinical Review. J Inherited Metab Dis [Suppl 1] 7: 90–92Google Scholar
- 8.Snead OC (1977) Gamma hydroxybutyrate. Life Sci 20:1935–1944Google Scholar