Urinary acylcarnitines in a patient with neonatal multiple acyl-CoA dehydrogenation deficiency, quantified by a carboxylic acid analyzer with a reversed-phase column

Clinica Chimica Acta; International Journal of Clinical Chemistry
K KidouchiY Wada

Abstract

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 to the 15th hour of DL-carnitine therapy, isovalerylcarnitine was the largest single component existing in urinary acylcarnitines. Its excretion increased approximately 10 times within 1 day of DL-carnitine therapy. However, the acetyl-, the isobutyryl- and the butyrylcarnitine values increased gradually. From the 8th day of the therapy, the isobutyrylcarnitine value exceeded the isovalerylcarnitine. The patient's dominant urinary specific acylcarnitine derived from amino acids oxidation deficiency was changed from isovalerylcarnitine(leucine) to isobutyrylcarnitine(valine) during the early period of DL-carnitine therapy. Glutarylcarnitine was a minor component in the urine. Its degree of increase was as small as that of octanoylcarnitine. 2-Methylbutyrylcarnitine and propionylcarnitine were not detected.

References

May 15, 1987·Clinica Chimica Acta; International Journal of Clinical Chemistry·K KidouchiD Nohara
Nov 1, 1986·Analytical Chemistry·S J GaskellC R Roe
Jan 1, 1985·Journal of Inherited Metabolic Disease·N GregersenS Kølvraa
May 1, 1968·Biochimica Et Biophysica Acta·T Bohmer, J Bremer

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Citations

Jul 16, 1993·Clinica Chimica Acta; International Journal of Clinical Chemistry·K MatsumotoH Yuki
Aug 1, 1990·Acta Paediatrica Japonica; Overseas Edition·N SugiyamaY Wada
Sep 30, 1994·Journal of Chromatography. a·M ShiraoT Maruyama

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