3‐Hydroxyisovalerylcarnitine in 3‐methylcrotonyl‐CoA carboxylase deficiency

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Abstract
Summary: A new acylcarnitine was observed in the plasma and urine of a patient with isolated 3‐methylcrotonyl‐CoA carboxylase deficiency. Analysis by tandem mass spectrometry of the methyl ester and butyl ester and their fragment ion spectra identified it as a 3‐hydroxy‐C5‐acylcarnitine. Fibroblasts from a second patient were incubated with deuterium‐labelled leucine. Incorporation of label in the new acylcarnitine identified its origin from leucine, and thus confirmed the structure as 3‐hydroxyisovalerylcarnitine. The presence of elevated amounts of this metabolite, plus a small amount of 3‐methylcrotonylcarnitine in plasma, was diagnostic for isolated 3‐methylcrotonyl‐CoA carboxylase deficiency. Other conditions in which a hydroxy‐C5‐acylcarnitine was present were readily differentiated by the abnormal elevation of other acylcarnitines.

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