| Autor: |
Anthony S. Wierzbicki, Phillip D. Mayne, Matthew D. Lloyd, David Burston, Guam Mei, Margaret C. Sidey, Michael D. Feher, F. Brian Gibberd |
| Jazyk: |
angličtina |
| Rok vydání: |
2003 |
| Předmět: |
|
| Zdroj: |
Journal of Lipid Research, Vol 44, Iss 8, Pp 1481-1488 (2003) |
| Druh dokumentu: |
article |
| ISSN: |
0022-2275 |
| DOI: |
10.1194/jlr.M300121-JLR200 |
| Popis: |
Adult Refsum disease (ARD) is associated with defective α-oxidation of phytanic acid (PA). ω-Oxidation of PA to 3-methyl-adipic acid (3-MAA) occurs although its clinical significance is unclear. In a 40 day study of a new ARD patient, where the plasma half-life of PA was 22.4 days, ω-oxidation accounted for 30% initially and later all PA excretion. Plasma and adipose tissue PA and 3-MAA excretion were measured in a cross-sectional study of 11 patients. The capacity of the ω-oxidation pathway was 6.9 (2.8–19.4) mg [20.4 (8.3–57.4) μmol] PA/day. 3-MAA excretion correlated with plasma PA levels (r = 0.61; P = 0.03) but not adipose tissue PA content. ω-Oxidation during a 56 h fast was studied in five patients. 3-MAA excretion increased by 208 ± 58% in parallel with the 158 (125–603)% rise in plasma PA. Plasma PA doubled every 29 h, while 3-MAA excretion followed second-order kinetics. Acute sequelae of ARD were noted in three patients (60%) after fasting. The ω-oxidation pathway can metabolise PA ingested by patients with ARD, but this activity is dependent on plasma PA concentration.ω-Oxidation forms a functional reserve capacity that enables patients with ARD undergoing acute stress to cope with limited increases in plasma PA levels. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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