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Rapid diagnosis of medium‐chain acyl CoA dehydrogenase deficiency by measurement of cis ‐4‐decenoic acid in plasma
Author(s) -
Heales S. J. R.,
Woolf D. A.,
Robinson P.,
Leonard J. V.
Publication year - 1991
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/bf01799930
Subject(s) - acyl coa dehydrogenase , dehydrogenase , chemistry , triglyceride , biochemistry , medium chain triglyceride , enzyme , endocrinology , medicine , cholesterol
Summary Plasma concentrations of octanoate and cis ‐4‐decenoate were measured by gas chromatography‐mass spectrometry in children with deficiencies of medium‐chain acyl‐CoA dehydrogenase (MCAD), long‐chain 3‐hydroxyacyl‐CoA dehydrogenase (3LHAD) and multiple acyl‐CoA dehydrogenase (MAD) deficiency. Children receiving medium‐ and long‐chain lipid supplements were also studied. Octanoate was elevated in all but one of the children with MCAD deficiency, in MAD deficiency and in children receiving medium‐chain triglyceride supplementation. Cis ‐4‐decenoate was only elevated in MCAD and MAD deficiency. It is concluded that measurement of plasma cis ‐4‐decenoate provides a sensitive and specific test for defects of medium‐chain acyl CoA dehydrogenase.