Urinary excretion of 2-methylacetoacetate, 2-methyl-3-hydroxybutyrate and tiglylglycine after isoleucine loading in the diagnosis of 2-methylacetoacetyl-CoA thiolase deficiency
| Autor: | Lawrence Sweetman, William L. Nyhan, D. Lehotay, S. Aramaki, Susan Winter, Bruce Middleton |
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| Rok vydání: | 1991 |
| Předmět: |
Male
medicine.medical_specialty Decarboxylation Glycine Hydroxybutyrates Urine Acetoacetates Urinary excretion Internal medicine Genetics 2-Methyl-3-hydroxybutyrate medicine Humans Isoleucine Genetics (clinical) Tiglylglycine chemistry.chemical_classification Thiolase Infant Acetyl-CoA C-Acyltransferase Butanones Enzyme Endocrinology chemistry Biochemistry |
| Zdroj: | Journal of inherited metabolic disease. 14(1) |
| ISSN: | 0141-8955 |
| Popis: | The concentrations of 2-methylacetoacetate, 2-methyl-3-hydroxybutyrate and tiglylglycine were determined by gas chromatography-mass spectrometry in urine collected before and for 8 h after loading with 100 mg of isoleucine per kg of body weight. The sum of 2-methylacetoacetate and 2-butanone, a decarboxylation product, was determined as the 2-butanone dinitrophenylhydrazone derivative. Substantial increases in each compound were encountered in a patient with a documented defect of 2-methylacetoacetyl-CoA thiolase. Increased quantities of 2-methyl-3-hydroxybutyrate and tiglylglycine were also found in four children with clinical symptoms similar to those associated with 2-methylacetoacetyl-CoA thiolase deficiency but in whom the activity of the enzyme was found to be normal. The concentration of 2-methylacetoacetate plus 2-butanone in the urine increased after an isoleucine load only in the patient with 2-methylacetoacetyl-CoA thiolase deficiency. |
| Databáze: | OpenAIRE |
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