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Detection of succinylacetone and the use of its measurement in mass screening for hereditary tyrosinemia
- Source :
- Clinica Chimica Acta. 123:93-99
- Publication Year :
- 1982
- Publisher :
- Elsevier BV, 1982.
-
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.
- Subjects :
- Paper
Creatinine
Chromatography
Metabolite
Biochemistry (medical)
Clinical Biochemistry
Porphobilinogen Synthase
General Medicine
Biochemistry
Heptanoates
Hereditary tyrosinemia
chemistry.chemical_compound
chemistry
Succinylacetone
Heptanoic Acids
Dehydratase
Methods
Humans
Tyrosine
Dried blood
Amino Acid Metabolism, Inborn Errors
Mass screening
Subjects
Details
- ISSN :
- 00098981
- Volume :
- 123
- Database :
- OpenAIRE
- Journal :
- Clinica Chimica Acta
- Accession number :
- edsair.doi.dedup.....e69d04bf54dc756cea2ea47c129edc77