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Plasma cis ‐dec‐4‐enoic acid measured by isotope dilution mass spectrometry; an improved assay to diagnose medium‐chain acyl‐CoA dehydrogenase deficiency
Author(s) -
Johnson D. W.,
Harrison J. R.,
Norton W. A.,
Poulos A.,
Robertson E. F.
Publication year - 1994
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf00711590
Subject(s) - acyl coa dehydrogenase , isotope dilution , chemistry , mass spectrometry , asymptomatic , chromatography , dehydrogenase , beta oxidation , biochemistry , metabolism , enzyme , medicine
Summary An isotope dilution mass spectrometric assay for plasma cis ‐dec‐4‐enoic acid is described. It is quicker, more reliable and more accurate than previous methods. It confirmed previous findings that cis ‐dec‐4‐enoic acid is a reliable indicator for medium‐chain acyl‐CoA dehydrogenase deficiency (MCAD). The plasma cis ‐dec‐4‐enoic acid levels of both asymptomatic and symptomatic MCAD patients (3.5–71 µmol/L) are demonstrably higher than those of normal children (0.2–1.7 µmol/L), MCAD heterozygotes (0.1–1.5 µmol/L), those with other fatty acid oxidation defects (0.2–2.2 µmol/L) or those receiving high doses of valproic acid (0.2–0.4 µmol/L).