|
Plasma:
| | | | |
|
VLCFA concentration
| | | | |
|
C26:0 Hexacosanoic
|
μg/mL
|
0.220
|
0.270
|
0.23 ± 0.09*
|
|
C26/C22
| |
0.021
|
0.012
|
0.01 ± 0.004*
|
|
C24/C22
| |
0.918
|
0.967
|
0.84 ± 0.918*
|
|
Phytanic acid
|
μg/mL
|
1.260
|
0.810
|
< 3.0
|
|
Pristanic acid
|
μg/mL
|
0.140
|
0.060
|
< 0.3
|
|
Fibroblasts:
| | | | |
|
Catalase immunofluorescence
| |
Near-normal
|
Normal
|
Normal
|
|
VLCFA concentration:
| | | | |
|
C26:0 concentration
|
μmol / g protein
|
0.20
|
0.20
|
0.18 - 0.38
|
|
C24:0 concentration
|
μmol / g protein
|
6.52
|
6.79
|
7.76 - 17.66
|
|
C22:0 concentration
|
μmol / g protein
|
3.00
|
3.23
|
3.84 - 10.20
|
|
Ratio C26:0 / C 22:0
| |
0.07
|
0.06
|
0.03 - 0.07
|
|
Ratio C24:0 / C 22:0
| |
2.18
|
2.10
|
1.55 - 2.30
|
|
Peroxisome function:
| | | | |
|
β-oxidation (of C16:0)
|
pmol / (mg protein / hour)
|
3876
|
5061
|
3330 - 7790
|
|
β-oxidation (of C26:0)
|
pmol / (mg protein / hour)
|
1290
|
1325
|
800 - 2040
|
|
β-oxidation (of pristanic acid)
|
pmol / (mg protein / hour)
|
157
|
248
|
790 - 1690
|
|
α-oxidation (of phytanic acid)
|
pmol / (mg protein / hour)
|
38
|
45
|
28 - 95
|
|
D-bifunctional protein activity:
| | | | |
|
Hydratase
|
pmol / (mg protein / min)
|
43
|
53
|
115 - 600
|
|
Dehydrogenase
|
pmol / (mg protein / min)
|
2
|
3
|
25 - 300
|
|
Immunoblotting:
| | | | |
|
DBP 79 kDa
| |
Trace
|
Trace
|
Present
|
|
DBP 45 kDa
| |
Absent
|
Absent
|
Present
|
|
DBP 35 kDa
| |
±/−
|
±/−
|
Present
|
