TABLE 5.
Bile acid concentration in serum from infants with peroxysomal defects (cases A-E), genetically proven Zellweger syndrome (case F) and X-linked adrenoleukodystropy (case G); (n.d. – not detected)
| Sample | Age [days] | TCDC [µmol/l] | GCDC [µmol/l] | CDC [µmol/l] | TC [µmol/l] | GC [µmol/l] | CA [µmol/l] | DHCA [µmol/l] | THCA [µmol/l] | C26 [µmol/l] | C26/C22 [µmol/l] |
|---|---|---|---|---|---|---|---|---|---|---|---|
| Reference | 2.01 | 1.41 | 0.01 | 1.53 | 1.43 | 0.08 | 0.01 | 0.01 | 0.2-1.6 | 0.005-0.029 | |
| A | 112 | 1.10 | 0.61 | 0.20 | 0.83 | 0.42 | n.d. | 21.2 | 3.96 | 10.7 | 0.38 |
| B | 65 | 7.43 | 4.40 | 0.91 | 4.14 | 2.10 | n.d. | 12.2 | 21.8 | 6.6 | 0.98 |
| C | 287 | 12.3 | 10.3 | 0.93 | 9.63 | 7.01 | n.d. | 4.93 | 10.9 | 3.36 | 0.40 |
| D | 10 | 8.21 | 17.8 | 1.10 | 8.52 | 11.9 | 0.42 | 0.42 | 0.71 | 19.9 | 3.15 |
| E | 193 | 17.0 | 7.10 | 1.0 | 5.44 | 2.33 | 0.10 | 10.6 | 4.56 | 11.4 | 0.85 |
| F | 111 | n.d. | n.d. | 0.9 | 0.3 | 2.91 | n.d. | 0.53 | 7.05 | 3.41 | 0.33 |
| G | 64 | 11.0 | 21.3 | 0.93 | 3.82 | 4.41 | n.d. | 0.02 | 0.01 | 2.25 | 0.38 |