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Plasma carnitine levels in disorders of fatty acid metabolism

Plasma carnitine levels in disorders of fatty acid metabolism
Enzyme defect Total carnitine Free carnitine Free:total carnitine ratio
Carnitine transporter Very low Low Normal
CPT I Normal or high High High
Translocase and CPT II Low Very low Low
VLCAD, LCAD, MCAD, SCAD, LCHAD, SCHAD ETF and ETF dehydrogenase, 2,4-dienoyl-CoA reductase Normal or low Low Normal or low
CoA: coenzyme A; CPT: carnitine palmitoyl transferase; ETF: electron transfer flavoprotein; LCAD: long-chain acyl-CoA dehydrogenase; LCHAD: long-chain 3-hydroxyacyl-CoA dehydrogenase; MCAD: medium-chain acyl-CoA dehydrogenase; SCAD: short-chain acyl-CoA dehydrogenase; SCHAD: short-chain 3-hydroxyacyl-CoA dehydrogenase; VLCAD: very long-chain acyl-CoA dehydrogenase.
Adapted from: Vockley J. Mayo Clin Proc 1994; 69:249.
Graphic 70936 Version 3.0

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