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Table 1 Characteristics of subjects with variant ACADM genotypes during fasting tolerance tests and PPA loading tests

From: In vitro and in vivo consequences of variant medium-chain acyl-CoA dehydrogenase genotypes

RESULTS FASTING TEST AND PPA LOADING TEST IN CHILDREN WITH VARIANT ACADM GENOTYPES

Case

Genotype

NBS

 

MCAD activity (%)

Fasting test

PPA loading test

 

Allele 1

Allele 2

C8:0

C8:0/C10:0

Organic acids

C6-CoA

+C4-CoA

PP-CoA

Age (mo)

Duration (h)

Glc(t = 15 h)

KB(t = 15 h)

Glc*KB(t = 15 h)

FFA/KB(t = 15 h)

C8:0 (t = 15 h)

C8:0/C10:0

PP-glycine

1

c.985A>G

c.199T>C

2.85

2.3

Normal

39

36

-

-

-

-

-

-

-

-

-

-

2

c.985A>G

c.199T>C

0.67

2.7

DC, HG

44

29

58

-

-

-

-

-

-

-

-

-

3

c.985A>G

c.199T>C

0.35

2.3

Trace N-HG, SG, DC

48

43

48

-

-

-

-

-

-

-

-

-

4

c.985A>G

c.199T>C

0.74

2.8

Trace HG

36

34

44

10

18

4.5

1.1

5.0

1.0

3.7

3.4

Trace

5

c.985A>G

c.473A>G

0.39

2.3

Normal

38

25

39

6

18.5

2.8

0.3

0.8

2.2

2.0

3.8

Absent

6

c.985A>G

c.734C>T

1.41

3.0

Trace DC, 5-OH-C, HG, SG

41

17

11

13

17

4.4

0.8

3.3

1.9

3.6

4.2

Trace

7

c.985A>G

c.928G>A

2.28

3.2

5-OH-H, trace HG

48

23

0

16

15

3.2

3.5

10.6

-

1.9

2.9

Absent

8

c.985A>G

Not found

0.70

1.3

Normal

28

-

-

25

18.5

4.0

0.9

3.7

1.5

2.9

2.1

Trace

9

c.985A>G

Not found

0.50

0.8

Normal

15

11

86

27

16.5

2.9

1.4

5.8

0.8

0.5

2.2

Trace

*

Classical ACADM genotype

2.98

12.7

5-OH-H, HG, PPG, SG, DC

28

14

0

-

17-24

3.1

0.6

5.7

2.2

-

-

High

#

Control population

-

-

-

-

-

-

0-24

15

4.1(3.1-4.8)

1.3(0.4-3.2)

5.5(1.2-15.4)

1.1(0.7-2.4)

-

-

Absent

#

Control population

-

-

-

-

-

-

25-84

15

4.6(3.8-5.3)

0.5(0.1-1.7)

2.1(0.4-8.9)

1.8(0.8-6.4)

-

-

Absent

  1. MCAD activity is determined in leukocytes. Residual MCAD enzyme activities are depicted as percentage from controls. At least one control was included in each enzyme assay. Ref, reference value; -, not determined; DC, dicarboxylic acids; Glc, glucose; HG, N- hexanoylglycine; SG, N- suberylglycine; PPG, phenylpropionylglycine; 5-OH-C, 5-OH-capronic acid; 5-OH-H, 5-OH-hexanoic acid; PPA, phenylpropionic acid; KB, ketone bodies; FFA, free fatty acids. * Characteristics of patients with classical ACADM genotypes during fasting according to Bonnefont et al. [10], median values are depicted. For NBS and enzymatic data median values from the UMCG cohort are depicted. # Reference values according to van Veen et al. [11] Median reference values are depicted. p10-p90 are indicated between brackets.