Table 1 Phenotype characteristics of VLCAD on screening and diagnostic clinical analyses

From: Very long-chain acyl-CoA dehydrogenase deficiency nomenclature: compound heterozygosity

Phenotype

units

Patient result

Reference range

Newborn screening (31 h)

  C14:2

µmol L−1

0.34

<0.18

  C14:1

µmol L−1

6.53

<0.60

  C14

µmol L−1

4.40

<0.80

  C14:1/C16

AU

0.70

<0.25

Acylcarnitine (4d)

  C14:2

nmol L−1

0.14

<0.05

  C14:1

nmol L−1

0.36

<0.30

  C14

nmol L−1

0.11

<0.06

Acylcarnitine (356d)

  C14:2

nmol L−1

1.49

<0.09

  C14:1

nmol L−1

4.57

<0.48

  C14

nmol L−1

1.45

<0.06

β-oxidation enzyme activity (4d)

  C2

 

5.3 ± 1.3

N/A

  C14

 

10.4 ± 2.2

N/A

  C16

 

52.7 ± 0.6

N/A

  1. h, hour of life, C14 Tetradecanoylcarnitine, C16 Hexadecanocylcarnitine, C2 acetylcarnitine, AU arbitrary units, d day of life, N/A not applicable
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