Studies on the urinary acidic metabolites from three patients with methylmalonic aciduria
- 1 October 1980
- journal article
- case report
- Published by Wiley in Journal of Mass Spectrometry
- Vol. 7 (10) , 424-428
- https://doi.org/10.1002/bms.1200071004
Abstract
By gas chromatographic mass spectrometric analysis, 2‐methyl‐3‐oxovaleric acid, 3‐oxovaleric acid, 3‐hydroxyvaleric acid and 2‐methyl‐3‐hydroxybutyric acid were identified in the urine from three patients with methylmalonic aciduria. The level of 2‐methyl‐3‐oxovaleric acid increased with the increase of methylmalonic acid concentration and the level of 3‐oxovaleric acid increased with the increase of ketone bodies. It was demonstrated that these metabolites are detectable from patients with propionic acidemia and methylmalonic aciduria when propionyl CoA accumulates in the cells of the patients either primarily or secondarily.Keywords
This publication has 12 references indexed in Scilit:
- The identification of 3-keto-2-methylvaleric acid and 3-hydroxy-2-methylvaleric acid in a patient with propionic acidemiaJournal of Mass Spectrometry, 1979
- Abnormal metabolites of isoleucine in a patient with propionyl-CoA carboxylase deficiencyJournal of Mass Spectrometry, 1978
- Accumulation of 3-hydroxyisobutyric acid, 2-methyl-3-hydroxybutyric acid and 3-hydroxyisovaleric acid in ketoacidosisClinica Chimica Acta; International Journal of Clinical Chemistry, 1975
- The occurrence of β-hydroxy-n-valeric acid in a patient with propionic and methylmalonic acidemiaClinica Chimica Acta; International Journal of Clinical Chemistry, 1973
- 3-Hydroxypropionate: Significance of β-Oxidation of Propionate in Patients with Propionic Acidemia and Methylmalonic AcidemiaProceedings of the National Academy of Sciences, 1972
- A McLafferty-type rearrangement of a trimethylsilyl group in silylated hydroxy carbonyl compoundsJournal of Mass Spectrometry, 1972
- Mass spectrometry of aldonic and deoxyaldonic acids as trimethylsilyl derivativesTetrahedron, 1970
- Methylmalonic aciduria. An inborn error of metabolism leading to chronic metabolic acidosis.Archives of Disease in Childhood, 1967
- Methylmalonic Acidemia a new inborn error of metabolism which may cause fatal acidosis in the neonatal periodScandinavian Journal of Clinical and Laboratory Investigation, 1967
- The Mass Spectra of Methyl Oleate, Methyl Linoleate, and Methyl Linolenate.Acta Chemica Scandinavica, 1959