Table 1 Analysis of plasma VLCFAs, branched-chain fatty acids and bile acids intermediates.
From: Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene
Controls (5% - 95% range) | Patient 1 | Patient 2 | |
|---|---|---|---|
▪ VLCFAs | |||
- C22:0 | 40-119 | 34 | 36 |
- C24:0 | 33-84 | 33 | 38 |
- C26:0 | 0.45-1.32 | 0.76 | 0.95 |
- C24:0/C22:0 | 0.57-0.92 | 0.98 | 1.07 |
- C26:0/C22:0 | 0-0.02 | 0.02 | 0.03 |
▪ Branched-chain fatty acids | |||
- Phytanic acid | 0-9 | 23.5 | 10.3 |
- Pristanic acid | 0-4 | 27.9 | 16.7 |
- Pristanic/Phytanic ratio | 0.05-0.4 | 1.19 | 1.62 |
▪ Bile acids intermediates | |||
- DHCA | 0-0.02 | 0.4 | 0.1 |
- THCA | 0-0.08 | 0.1 | 0.2 |