Introduction
Methods
Patients
Biochemical measurements
Measurement of C26:0-lysoPC and C26:0-carnitine in DBS
Measurement of C26:0-lysoPC in fibroblast homogenates
Other peroxisomal parameters
Results
Patient characteristics
C26:0-lysoPC in DBS | ZSD (n = 37) | Control (n = 209) |
Gender (male) | 16 (43%) | 135 (65%) |
Average age (years) | 15.6 (range 0–49) | 16.6 (range 0–81.7) |
Mutations | ||
PEX1
|
n = 29 | |
PEX6
|
n = 3 | |
PEX10
|
n = 2 | |
PEX26
|
n = 2 | |
Unknown |
n = 1 | |
C26:0-carnitine in DBS | ZSD (n = 29) | Control (n = 97) |
Gender (male) | 13 (45%) | 58 (60%) |
Average age (years) | 15.2 (range 0–49) | 16.1 (range 0–81.7) |
Mutations | ||
PEX1
|
n = 23 | |
PEX6
|
n = 2 | |
PEX10
|
n = 2 | |
PEX26
|
n = 1 | |
Unknown |
n = 1 |
C26:0-lysoPC in fibroblasts | ZSD (n = 24) | Control (n = 63) |
---|---|---|
Gender (male) | 16 (67%) | 35 (56%) |
Average age (years) | 3.1 (range 0–22.1) | 15.7 (range 0–68.3) |
Mutations | ||
PEX1
|
n = 8 | |
PEX2
|
n = 3 | |
PEX3
|
n = 3 | |
PEX6
|
n = 3 | |
PEX10
|
n = 2 | |
PEX12
|
n = 1 | |
PEX13
|
n = 1 | |
PEX16
|
n = 1 | |
PEX19
|
n = 1 | |
Unknown |
n = 1 |
C26:0-lysoPC
Patient number | #1 | #2 | #3 | #4 |
---|---|---|---|---|
Diagnosis | ZSD | ZSD | DBP | DBP |
Biochemical parameter | ||||
C26:0-lysoPC (DBS) Ref: 29–72 nmol/L |
279 nmol/L
|
410 nmol/L
|
92 nmol/L
|
226 nmol/L
|
C26:0 (plasma) Ref: 0.45–1.32 μmol/L | 1.28 μmol/L | 1.24 μmol/L | 0.55 μmol/L | 1.25 μmol/L |
Ratio C24:0/C22:0 (plasma) Ref: 0.57–0.92 |
0.95
|
1.03
| 0.8 | 0.83 |
Ratio C26:0/C22:0 (plasma) Ref: 0.0–0.02 | 0.02 |
0.03
| 0.01 | 0.02 |
C16:0-dimethylacetal (erythrocytes) Ref: 6.8–11.9% |
6.5%
| 7.9% | nm | nm |
C18:0-dimethylacetal (erythrocytes) Ref: 10.6–24.9% | 16.3% | 18.9% | nm | nm |
Phytanic acid (plasma) Ref: 0.5–9.9 μmol/L | 0.9 μmol/L | 5.7 μmol/L | 1.7 μmol/L | 1.1 μmol/L |
Pristanic acid (plasma) Ref: 0.1–3.0 μmol/L | 0.1 μmol/L | 1.7 μmol/L | 0.1 μmol/L | 0.1 μmol/L |
Pipecolic acid (plasma) Ref: 0.1–7.0 μmol/L | 5.5 μmol/L |
19 μmol/L
| nm | 1.3 μmol/L |
DHCA (plasma) Ref: 0.0–0.0 μmol/L | 0.0 μmol/L |
0.2 μmol/L
| 0.0 μmol/L | 0.0 μmol/L |
THCA (plasma) Ref: 0.0–0.1 μmol/L | 0.0 μmol/L |
0.4 μmo/L
| 0.0 μmol/L | 0.0 μmol/L |