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Table 1 Laboratory results of our patient

From: Characterization of two ETFDH mutations in a novel case of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency

Age Test Results Normal Values Units
24 years Urine TC 99.94 83.1–777.8 nMol/mg protein
Muscle TC 4.23* 10.5–29.5 nMol/mg protein
26 years Urine TC 1335.0* 36–561.7 mMol/24 h
Urine FC 454.5* 30.5–282.1 mMol/24 h
Urine ScACE 880.5* 83–777.8 mMol/24 h
Urine AC/FC 1.94 0.42–3.04 /
Plasma TC 58.5 36.2–72.9 nMol/mg protein
Plasma FC 44.7 27.6–61.9 nMol/mg protein
Plasma LcACE 9.2* 0.9–4.8 nMol/mg protein
Plasma AC/FC 0.31 0.09–0.78 /
38 years Urine TC 1538.0* 36–561.7 mMol/24 h
Plasma TC 41.57 36.2–72.9 nMol/mg protein
  1. TC, total carnitine, FC free carnitine, AC acyl carnitine, ScCE short-chain Acyl-carnitine ester, LcCE long-chain Acyl-carnitine ester. (*outside normal values)