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Digitale Medien

Rapid diagnosis of medium-chain acyl CoA dehydrogenase deficiency by measurement ofcis-4-decenoic acid in plasma (1991)

Heales, S. J. R. ; Woolf, D. A. ; Robinson, P. ; [weitere]

Springer

Journal of inherited metabolic disease 14 (1991), S. 661-667

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Details

ISSN: 1573-2665

Quelle: Springer Online Journal Archives 1860-2000

Thema: Medizin

Notizen: Summary Plasma concentrations of octanoate andcis-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 plasmacis-4-decenoate provides a sensitive and specific test for defects of medium-chain acyl CoA dehydrogenase.

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1007/BF01799930

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