Table 2.
Biochemical findings in fibroblasts of the index patient, Zellweger patients, and controls
| Parameter measured | Index patient | Zellweger (n) | Controls (n) |
|---|---|---|---|
| De novo plasmalogen biosynthesis | |||
| [3H]/[14C] in PE | 1.3 | >6.4 (46) | 1.5 ± 0.9 (38) |
| [3H]/[14C] in PC | 0.7 | >3.1 (46) | 1.1 ± 0.7 (38) |
| DHAP-AT activity, nmol/2 h⋅mg | 7.1 | 0.6 ± 0.5 (23) | 8.1 ± 2.5 (78) |
| VLCFA | |||
| C26:0, nmol/mg protein | 1.94 | 1.44 (0.53–3.05) | 0.10 (0.06–0.22) |
| n = 66 | n = 101 | ||
| C26:0/C22:0 ratio | 0.83 | 0.52 (0.21–1.07) | 0.03 (0.02–0.05) |
| n = 66 | n = 101 | ||
| Peroxisomal β-oxidation, pmol/h⋅mg | |||
| C26:0 | 169 | 316 ± 384 (28) | 902 ± 430 (81) |
| Pristanic acid | 0 | 16 ± 19 (31) | 1030 ± 475 (74) |
PE, total phosphatidylethanolamine; PC, total phosphatidylcholine; DHAPAT, dihydroxyacetonephosphate acyltransferase; VLCFA, very-long-chain fatty acids. The control and Zellweger values listed in the table represent mean ± SD (n − 1) except for VLCFA, for which the mean and the ranges are given.