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Literature DB >> 3409929

4-Hydroxybutyric aciduria in a patient without ataxia or convulsions.

K M Gibson¹, G Hoffmann, W L Nyhan, S Aramaki, J A Thompson, S I Goodman, D A Johnson, R R Fife.

Abstract

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.

Entities: Chemical Disease Species

Mesh：

Substances：

Year: 1988 PMID： 3409929 DOI： 10.1007/bf00441983

Source DB: PubMed Journal: Eur J Pediatr ISSN： 0340-6199 Impact factor: 3.183

8 in total

1. The occurrence of (S)-3,4-dihydroxybutyrate in human blood and urine.

Authors: V Fell; C R Lee; R J Pollitt
Journal: Biochem Med Date: 1975-05

2. Succinic semialdehyde dehydrogenase deficiency--a further case.

Authors: E A Haan; G K Brown; D Mitchell; D M Danks
Journal: J Inherit Metab Dis Date: 1985 Impact factor: 4.982

3. Evidence for the beta-oxidation of orally administered 4-hydroxybutyrate in humans.

Authors: C R Lee
Journal: Biochem Med Date: 1977-06

4. O-(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.

Authors: G Hoffmann; L Sweetman
Journal: J Chromatogr Date: 1987-10-30

Review 5. Gamma hydroxybutyrate.

Authors: O C Snead
Journal: Life Sci Date: 1977-06-15 Impact factor: 5.037

6. 4-Hydroxybutyric aciduria: a new inborn error of metabolism. III. Enzymology and inheritance.

Authors: K M Gibson; I Jansen; L Sweetman; W L Nyhan; D Rating; C Jakobs; P Divry
Journal: J Inherit Metab Dis Date: 1984 Impact factor: 4.982

7. 4-Hydroxybutyric aciduria: a new inborn error of metabolism. I. Clinical review.

Authors: D Rating; F Hanefeld; H Siemes; J Kneer; C Jakobs; M Hermier; P Divry
Journal: J Inherit Metab Dis Date: 1984 Impact factor: 4.982

8. 4-Hydroxybutyric aciduria: a new inborn error of metabolism. II. Biochemical findings.

Authors: C Jakobs; J Kneer; D Rating; F Hanefeld; P Divry; M Hermier
Journal: J Inherit Metab Dis Date: 1984 Impact factor: 4.982

8 in total

4 in total

4-Hydroxybutyric aciduria in a patient without ataxia or convulsions.

1. The occurrence of (S)-3,4-dihydroxybutyrate in human blood and urine.

2. Succinic semialdehyde dehydrogenase deficiency--a further case.

3. Evidence for the beta-oxidation of orally administered 4-hydroxybutyrate in humans.

4. O-(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.

Review 5. Gamma hydroxybutyrate.

6. 4-Hydroxybutyric aciduria: a new inborn error of metabolism. III. Enzymology and inheritance.

7. 4-Hydroxybutyric aciduria: a new inborn error of metabolism. I. Clinical review.

8. 4-Hydroxybutyric aciduria: a new inborn error of metabolism. II. Biochemical findings.

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

Review 2. Physiology and pathophysiology of organic acids in cerebrospinal fluid.

3. Visual evoked potentials in succinate semialdehyde dehydrogenase (SSADH) deficiency.

4. 4-Hydroxybutyric aciduria: further clinical heterogeneity in a new case.