Table 2.
Peroxisomal Biochemical Profile in Pt1, Pt2, and Pt3[Note]
| Assay | Units | Pt1 | Pt2 | Pt3 | Control | PBD | X-ALDa |
| Blood analytes: | |||||||
| VLCFA | μg/ml, for C26:0 | 2.09 | 2.48 | 2.98 | .22±.08 | 3.31±1.63 | 1.18±.53 |
| μg/ml, for C26:1 | 2.02 | 1.86 | 2.34 | .12±.05 | 1.55±.55 | .19±.05 | |
| C24/C22 | 1.56 | 1.65 | 1.85 | .84±.08 | 1.95±.42 | 1.49±.45 | |
| C26/C22 | .16 | .21 | .18 | .01±.01 | .52±.24 | .07±.04 | |
| Plasmalogensb | C16 DMA/C16 | .054 | .059 | .050 | .051-.090 | .001-.025 | NM |
| C18 DMA/C18 | .14 | .151 | .118 | .137-.255 | .001-.050 | NM | |
| l-Pipecolic acid | Micromolar | 1.2 | .2 | 1.1 | 1.8±.9c | 47±42.1c | NM |
| Fibroblasts: | |||||||
| VLCFA | μg/mg protein, for C26:0 | .335 | .535 | .329 | .07±.04 | .87±.44 | .42±.15 |
| μg/mg protein, for C26:1 | .116 | .216 | .057 | .09±.07 | 1.06±.72 | .17±.1 | |
| C26/C22 | .731 | .828 | .728 | .08±.03 | 1.00±.33 | .69±.19 | |
| C24:0 β-oxidation | nmol/h/mg protein | .229 | .298 | .109 | 1.16±.166 | .10±.05 | .31±.06 |
| Plasmalogen synthesis | 3H/14C | .56 | .93 | .7 | .67±.19 | 9.92±4.4 | NM |
| Phytanic acid oxidation | % of control value | 106 | 99.3 | 123 | 100 | 2.2 | NM |
| Catalase solubility | % Soluble | 18 | 22 | 26 | <25 | >85 | NM |
Note.— For each test and each disease category, the results are for ⩾10 cases—except in the case of β-oxidation, for which the results are from 10 control cell lines, 7 PBD cell lines, and 7 X-ALD cell lines.
a
NM = not measured routinely.
b
DMA = dimethylacetal.
c
Patients were 1–6 mo of age.