2-Methylbutyryl-L-carnitine is not usually detected in normal individuals. The elevation of 2-methylbutyrylcarnitine suggests a deficiency of a dehydrogenase specific for isobutyryl-CoA, important in the differential diagnosis of branched chain organic acidurias by analysis of urinary organic acids and acylcarnitines in plasma or dried blood spots.
Concentrations of l-carnitine and acylcarnitines have been determined in urine from patients with disorders of organic acid metabolism associated with an intramitochondrial accumulation of acyl-CoA intermediates. These included propionic acidemia, methylmalonic aciduria, isovaleric acidemia, multicarboxylase deficiency, 3-hydroxy-3-methylglutaric aciduria, methylacetoacetyl-CoA thiolase
2-methylbutyryl-CoA dehydrogenase deficiency, also known as short/branched-chain acyl-CoA dehydrogenase (SBCAD) deficiency, is a recently described autosomal recessive disorder of L-isoleucine metabolism. Only 4 affected individuals in 2 families have been described. One patient developed athetoid cerebral palsy, and another had
Clinica chimica acta; international journal of clinical chemistry, 173(3), 263-272 (1988-04-29)
A quantitative analysis for urinary acylcarnitines in a patient with neonatal multiple acyl-CoA dehydrogenation deficiency is described. This method (liquid chromatography) can quantify twelve acylcarnitines including glutarylcarnitine and 3 isomeric acylcarnitines (butyryl-1, valeryl- and octanoylisomer) in urine. Before and up
World journal of gastroenterology, 12(1), 110-113 (2006-01-28)
To determine the plasma carnitine ester profile in adult patients with ulcerative culitis (UC) and compared with healthy control subjects. Using ESI triple quadrupole tandem mass spectrometry, the carnitine ester profile was measured in 44 patients with UC and 44
Drugs under experimental and clinical research, 31(3), 109-114 (2005-07-22)
The pool of different carnitine derivatives is formed by carnitine, acetylcarnitine, propionylcarnitine and isovalerylcarnitine. Isovalerylcarnitine is a compound performing activities that differ from those of the other carnitine esters. Its activity on proteolytic enzymes and on the calpain system has
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