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Detection of succinylacetone and the use of its measurement in mass screening for hereditary tyrosinemia
Abstract
A technique designed to measure quantitatively succinylacetone (4,6-dioxoheptanoic acid) is presented. It essentially involves the inhibition of delta-aminolevulinate dehydratase (EC 4.2.1.24) by succinylacetone. Prior to their use in the assay, the samples are heated at 100 degrees C for 30 min in order to transform all succinylacetoacetate (3,5-dioxooctanedioic acid) to succinylacetone. By this transformation of the first abnormal metabolite specific to hereditary tyrosinemia to the second and last one, which is a powerful inhibitor of delta-aminolevulinate dehydratase, we determine in one sensitive assay the total amount of both. Succinylacetone was measured in sera and urines from 19 patients with hereditary tyrosinemia. All sera and urines contained succinylacetone at concentrations ranging, respectively, from 2 to 100 mumol/l and from 190 to 6000 mumol/g creatinine. The technique was also adapted to dried blood spots on paper and was used as a test complementary to blood tyrosine determination in mass screening for hereditary tyrosinemia. A total of 2412 samples having concentrations of 60 mg/l or more of tyrosine were assayed, and ten showed the presence of succinylacetone. These were all from newborns with hereditary tyrosinemia. The test has proven to virtually eliminate false positives, and, thereby, much clerical work and parental anxiety.
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Variation in SA levels existed between animals, which is consistent with the finding that SA levels in HT1 patients can vary considerably.
“Variation in SA levels existed between animals, which is consistent with the finding that SA levels in HT1 patients can vary considerably (8, 39).”
From Point mutations in the murine fumarylacetoacetate hydrolase gene: Animal models for the human genetic disorder hereditary tyrosinemia type 1 (2001) · cites this paper as [8]
Presence of SA is diagnostic for HT1.
“and its presence is diagnostic for the disease (2, 8, 9).”
From Point mutations in the murine fumarylacetoacetate hydrolase gene: Animal models for the human genetic disorder hereditary tyrosinemia type 1 (2001) · cites this paper as [8]
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References 9 · Cited by 73
Research works printed but not linked: 9
- Bergeron, 1974, Hereditary tyrosinemia in the province of Quebec: prevalence at birth and geographic distribution, Clin Genet, 5, 157, 10.1111/j.1399-0004.1974.tb01677.x · DOI
- Grenier, 1980, Les maladies métaboliques héréditaires au Québec: le dépistage sanguin, Union Méd Canada, 109, 591
- Grenier, 1974, A modified automated fluorometric method for tyrosine determination in blood spotted on paper: a mass screening procedure for tyrosinemia, Clin Chim Acta, 57, 71, 10.1016/0009-8981(74)90179-X · DOI
- Grenier, 1976, α1-Fetoprotein measurement in blood spotted on paper: discriminating test for hereditary tyrosinemia in neonatal mass screening, Clin Chem, 22, 1001, 10.1093/clinchem/22.7.1001 · DOI
- Grenier, 1978, Polystyrene tube immunoradiometric assay for human α1-fetoprotein and its use for mass screening, Clin Chem, 24, 2158, 10.1093/clinchem/24.12.2158 · DOI
- Collier, 1971, A study of the determination of 5-aminolevulinate hydro-lyase (δ-aminolevulinate dehydratase) activity in hemolysates of human erythrocytes, Clin Chim Acta, 4, 222
- Knox, 1955, The properties of maleylacetoacetate, the initial product of homogentisate oxidation in liver, J Biol Chem, 216, 489, 10.1016/S0021-9258(19)81407-2 · DOI
- Roscher, 1977, Thin layer Chromatographic analysis of oxo and thio compounds, J Chromatogr, 140, 109, 10.1016/S0021-9673(00)83609-2 · DOI
- Kisker, 1963, A silver-catalyzed cistrans isomerization, Tetrahedron, 19, 701, 10.1016/S0040-4020(01)99205-1 · DOI
Metadata
- Authors
- Grenier, A., Lescault, A., Laberge, C., Gagné, R., & Marner, O.
- Affiliations
- Centre hospitalier de l'Université Laval (CA)
- Corresponding author
- Grenier, André
- Venue
- Clinica Chimica Acta
- Publisher
- Elsevier BV
- Published
- 1982-08
- Volume
- 123
- Issue
- 1-2
- Pages
- 93-99
- ISSN
- 0009-8981 (ISSN-L)
- OpenAlex
- W1992243991
- Cited by
- 73
- References
- 9
- Citations by year
- 2024: 1 · 2022: 3 · 2021: 2 · 2020: 2 · 2019: 2 · 2018: 1 · 2017: 3 · 2013: 1 · 2012: 1
- FWCI
- 3.23
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Clinica Chimica Acta (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Medical Research Council
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Biochemistry › Amino Acid Enzymes and Metabolism
- Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Neonatal Health and Biochemistry
- Keywords
- succinylacetone, hereditary tyrosinemia, dried blood spots, newborn screening, mass screening, false positive reduction
- MeSH terms
- Amino Acid Metabolism, Inborn Errors, Porphobilinogen Synthase, Heptanoates, Heptanoic Acids, Humans, Methods, Paper, Tyrosine
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