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Cited by 28Metabolism and Genetic DisordersMetabolomics and Mass Spectrometry StudiesForensic Toxicology and Drug Analysis

The DOI matches its Crossref record.

Routine gas chromatographic/mass spectrometric analysis of urinary organic acids. Results over a three-year period

Divry, P., Vianey-Liaud, C., Cotte, J.·1987·Biological Mass Spectrometry
DOI 10.1002/bms.1200141117
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Abstract

Organic acidaemias are an important part of inborn errors of metabolism. The biochemical diagnosis is based on gas chromatographic/mass spectrometric identification of urinary organic acids. Since 1973 we have used gas chromatographic analysis of the methyl esters of urinary organic acids. Mass spectral identification was performed only when an abnormal gas chromatographic profile was suspected. In 1983 we introduced routine gas chromatographic/mass spectrometric analysis organic acids. More than 1500 urine samples from 1000 children have been analysed and we encountered more than 40 abnormal profiles: 18 classical organic acidaemias (propionic, methylmalonic, isovaleric, glutaric type I and 3-hydroxy-3-methyl glutaric acidaemias); 6 aminoacidopathies with excretion of branched chain keto acids (leucinosis) or succinylacetone (tyrosinosis type I); 14 massive dicarboxylic acidurias with excretion of suberyl and hexanoyl glycine and deficiency of the medium chain acyl CoA dehydrogenase in four patients. The use of gas chromatography/mass spectrometry routinely allows the identification of abnormal metabolites excreted in small amounts: beta-methyl-crotonyl glycine indicative of biotin deficiency: gamma-hydroxybutyric acid; and 3-methyl-glutaconic + 3-methy-glutaric acid is in a 3-methyl-glutaconic aciduria type II. Abnormal profiles due to metabolites of drugs as valproate, salicylate and barbiturate can be recognized immediately. This simple gas chromatographic/mas spectrometr…

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Research works printed but not linked: 19

  1. Tanaka, 1966, Proc. Natl. Acad. Sci. USA, 56, 236, 10.1073/pnas.56.1.236 · DOI
  2. Hommes, 1968, Pediatr. Res., 2, 519, 10.1203/00006450-196811000-00010 · DOI
  3. Oberholzer, 1967, Arch. Dis. Child., 42, 492, 10.1136/adc.42.225.492 · DOI
  4. Divry, 1981, J. Inher. Metab. Dis., 4, 173, 10.1007/BF02263646 · DOI
  5. Divry, 1981, J. Inher. Metab. Dis., 4, 139, 10.1007/BF02263629 · DOI
  6. Divry, 1982, J. Inher. Metab. Dis., 5, 41, 10.1007/BF01799819 · DOI
  7. and in Organic Acidemias, ed. by and p. 167, Churchill Livingstone, London (1972).
  8. Goodman, 1980, Am. J. Hum. Genet., 32, 781
  9. Chalmers, 1980, J. Inher. Metab. Dis., 3, 27, 10.1007/BF02312520 · DOI
  10. Wadman, 1982, Metabolic Acidosis, Ciba Foundation symposium, 87, 324, 10.1002/9780470720691.ch18 · DOI
  11. Bennett, 1984, Ann. Clin. Biochem., 21, 45, 10.1177/000456328402100108 · DOI
  12. Lehnert, 1984, Eur. J. Pediatr., 142, 208, 10.1007/BF00442451 · DOI
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Metadata

Authors
Divry, P., Vianey-Liaud, C., & Cotte, J.
Affiliations
Hôpital Debrousse (FR)
Venue
Biological Mass Spectrometry
Publisher
Wiley
Published
1987-11
Volume
14
Issue
11
Pages
663-668
ISSN
  • 1076-5174 (ISSN-L)
  • 0887-6134
  • 1096-9888
DOI
10.1002/bms.1200141117
OpenAlex
W2001051038
Cited by
28
References
0
Citations by year
2019: 1 · 2015: 2
FWCI
1.42
Type
journal article
Language
en
Open access
closed
Licence
doi.wiley.com/10.1002/tdm_license_1.1 (tdm, 10166 d)
Locations
  • Journal of Mass Spectrometry (publishedVersion)
  • PubMed (publishedVersion)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Metabolomics and Mass Spectrometry Studies
  • Life Sciences › Pharmacology, Toxicology and Pharmaceutics › Toxicology › Forensic Toxicology and Drug Analysis
Keywords
urinary organic acids, inborn errors of metabolism, gas chromatography-mass spectrometry, methyl esters, propionic acidemia, methylmalonic acidemia, isovaleric acidemia, glutaric aciduria type I, amino acid metabolism disorders, succinylacetone, dicarboxylic aciduria, medium-chain acyl-CoA dehydrogenase deficiency, biotin deficiency, drug metabolites, valproic acid, salicylates, barbiturates, children
MeSH terms
Carboxylic Acids, Esters, Humans, Gas Chromatography-Mass Spectrometry, Methylation, Reference Values

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