Results from fibroblast studies
| *pmol/h/mg protein; †pmol/min/mg protein. | ||
| ND, Not detectable; AMACR, α-methylacyl-CoA racemase. | ||
| For methods see Ferdinandusse16. | ||
| Patient | De novo plasmalogen biosynthesis: | Normal |
| DHAP-AT activity: | Normal | |
| Pristanic acid β- oxidation activity* | 284 | |
| AMACR activity† | ND | |
| Controls | Pristanic acid β- oxidation activity* | 1147 (SD 325) (n=30) |
| AMACR activity† | 92 (SD 30) (n=11) | |