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Identification of undescribed medium-chain acylcarnitines present in urine of patients with propionic and methylmalonic acidemias

Authors
Journal
Clinica Chimica Acta
0009-8981
Publisher
Elsevier
Publication Date
Volume
295
Identifiers
DOI: 10.1016/s0009-8981(00)00195-9
Keywords
  • Acylcarnitines
  • Propionyl-Coa Carboxylase Deficiency
  • Methylmalonic Acidemia
Disciplines
  • Chemistry
  • Medicine

Abstract

Abstract In urine of patients with propionyl-CoA carboxylase deficiency or with methylmalonic acidemia, carnitine esters of 2-methyl-branched fatty acids of all chain lengths between 4 and 9 atoms of carbon were identified during the acute phase of the diseases. The chemical structure of these compounds was obtained by gas chromatography–mass spectrometry analysis of their fatty acid moieties in their free and picolinyl ester forms. We suggest mechanisms for the biosynthesis of these branched fatty acids, and their accumulation in urine during episodes of caloric imbalance.

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