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Table 3 Major biochemical determinations performed on cultured skin fibroblasts from patient.

From: A novel mutation of the ACADM gene (c.145C>G) associated with the common c.985A>G mutation on the other ACADM allele causes mild MCAD deficiency: a case report

Metabolic steps

Substrates

Patient

Controls

  

(nmol/hr.mg protein)

(nmol/hr.mg protein)

Mitochondrial oxidations assayed

- by carbon dioxide production

[1,4-14C]-succinatee

3.28

4.08 ± 0.71 (n = 20)

[1-14C]-butyratef

7.37

8.83 ± 1.69 (n = 20)

[1-14C]-octanoateg

1.09

6.75 ± 2.08 (n = 20)

- by carbon dioxide plus water soluble material production

[1-14C]-palmitateh

10.59

10.85 ± 2.60 (n = 20)

- by tritiated water formation

[9,10-3H]-myristic acid a

0.90b

5.81 ± 2.27 (n = 76)

[9,10-3H]-myristic acid a,c

1.03

8.04 ± 1.74 (n = 20)

[9,10-3H]-palmitic acidd

3.49

9.39 ± 1.70 (n = 20)

Acyl-CoA dehydrogenases

(ETF as an electron acceptor)

 

(nmol/min.mg

protein)

(nmol/min.mg

protein)

-VLCAD

palmitoyl-CoAi

0.69

1.3 ± 0.5 (n = 55)

-MCAD

octanoyl-CoAj

0.48

1.7 ± 0.5 (n = 55)

-SCAD

butyryl-CoAk

0.71

1.0 ± 0.4 (n = 55)

Enoyl-CoA hydratases

crotonyl-CoA (C4)

307

346 ± 112 (n = 63)

2-dodecenoyl-CoA (C12)

81

78 ± 25 (n = 59)

C12/C4 activity ratio

0.26

0.24 ± 0.05 (n = 59)

β-hydroxyacyl-CoA dehydrogenases

acetoacetyl-CoA (C4)

116

99.5 ± 32.1 (n = 105)

β-keto-palmitoyl-CoA (C16)

74

81.8 ± 22.8 (n = 102)

C16/C4 activity ratio

0.64

0.86 ± 0.20 (n = 102)

β-ketoacyl-CoA thiolase

β-keto-palmitoyl-CoA (C16)

19.8

20.64 ± 7.79 (n = 47)

acetoacetyl-CoA (no K+)

5.20

6.44 ± 3.46 (n = 60)

acetoacetyl-CoA (with K+)

13.7

13.40 ± 6.22 (n = 60)

activity ratio AA-CoA with

  
 

K+ on AA-CoA without K+

2.64

2.17 ± 0.59 (n = 60)

Succinyl-CoA Ketoacid Transferase

succinyl-CoA and acetoacetate

10.4

12.11 ± 3.60 (n = 25)

Carnitine palmitoyltransferase

Type I (outer)

palmitoyl-CoA

0.53

0.58 ± 0.26 (n = 12)

Type II (inner)

palmitoyl-CoA

20.70

15.37 ± 3.13 (n = 8)

Cell membrane carnitine transport

L-carnitine

0.73 10-3

0.83 10-3 ±0.25 10-3 (n = 8)

  1. Control values are means ± SD
  2. a Performed by two laboratories; b Conjointly run with fibroblasts from a patient with classical MCADD (homozygous for c.985A>G mutation) and for whom measured activity was 0.4 nmol/hr.mg protein;
  3. c,d Conjointly run with control fibroblasts exhibiting rates of 7.36 and 9.60 nmol/hr.mg protein, respectively; e,f,g,h Concomitantly run with control fibroblasts exhibiting rates of 3.29, 8.10, 4.12 and 11.01 nmol/hr.mg protein, respectively; i,j,k Conjointly run with control fibroblast preparations having activities of 0.70, 1.36 and 0.48 nmol/hr.mg protein, respectively.
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172