4-Hydroxybutyric Aciduria in a Patient Without Ataxia or Convulsions

Overview

Journal Eur J Pediatr

Specialty Pediatrics

Date 1988 Jun 1

PMID 3409929

Citations 6

Authors

K M Gibson

G Hoffmann

W L Nyhan

S Aramaki

J A Thompson

S I Goodman

D A Johnson

R R FIFE

Affiliations

Soon will be listed here.

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.

Citing Articles

Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder.

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Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency.

Tokatly Latzer I, Bertoldi M, Blau N, DiBacco M, Elsea S, Garcia-Cazorla A Mol Genet Metab. 2024; 142(1):108363.

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

Di Rosa G, Malaspina P, Blasi P, Dionisi-Vici C, Rizzo C, Tortorella G J Inherit Metab Dis. 2009; 32 Suppl 1:S201-5.

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

Crutchfield S, Haas R, Nyhan W, Gibson K Dev Med Child Neurol. 2008; 50(11):880-1.

PMID: 18811705 PMC: 2668832. DOI: 10.1111/j.1469-8749.2008.03116.x.

Physiology and pathophysiology of organic acids in cerebrospinal fluid.

Hoffmann G, Meier-Augenstein W, Stockler S, Surtees R, Rating D, Nyhan W J Inherit Metab Dis. 1993; 16(4):648-69.

PMID: 8412012 DOI: 10.1007/BF00711898.

References

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Rating D, Hanefeld F, Siemes H, Kneer J, Jakobs C, Hermier M . 4-Hydroxybutyric aciduria: a new inborn error of metabolism. I. Clinical review. J Inherit Metab Dis. 1984; 7 Suppl 1:90-2. View

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Hoffmann G, Sweetman L . 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. J Chromatogr. 1987; 421(2):336-43. DOI: 10.1016/0378-4347(87)80413-9. View