Table 1 of
García-García, Mol Vis 2020; 26:216-225.
Table 1. Biochemical parameters in blood of patients from Family 1.
VCFAs species | Family 1 - Case II:1 | Family 1 - Case II:2 | Reference values | |
---|---|---|---|---|
VLCFA (µmol/l) | C22:0 | 26 | 24,8 | 51,1–113,4 |
C24:0 | 24,8 | 30 | 44,3–92,4 | |
C26:0 | 0,695 | 1,32 | 0,220–0,880 | |
VLCFA ratio | C24:0/C22:0 | 0,954 | 1,21 | 0,550–0,890 |
C26:0/C22:0 | 0,027 | 0,053 | 0,004–0,021 | |
Phytanic acid (µmol/l) | 6,9 | 11 | <2 | |
Pristanic acid (µmol/l) | 2,7 | 4,5 | <1 |