Refsum disease, also known as phytanic acid
storage disease, is an autosomal recessive genetic disease, belonging to hereditary motor sensory neuropathy Type-IV.
sup] In this study, palmitic acid, phytanic acid and behenic acid, which decreased significantly in the sera of TB patients compared with the healthy group, bronchiectasis, and COPD subgroups, may be among the products of the fatty acid consumption.
Phytanic acid, a 20-carbon branched chain fatty acid, can be used as the substrate of CYP124A1, [sup] which is a heme-containing enzyme that belongs to the cytochrome p450 superfamily.
Biochemical investigations like RBC plasmalogen levels and phytanic acid
levels could not be done because of financial constraints.
Since phytanic acid
contains a methyl group on the 3-carbon position, [beta]-oxidation of the acid is blocked, but the acid can be degraded by [beta]-oxidation after the removal of one carbon from carboxylic end of the acid by [alpha]-oxidation (Fig.
Further, RP may occur associated with various genetic disorders such as: Usher syndrome (3); Leber congenital amaurosis (4); Bardet-Biedl syndrome (5); Alstrom disease (6); and Phytanic acid storage disease (7) to name a few.
Phytanic acid storage disease (Refsum's disease): clinical characteristics, pathophysiology and the role of therapeutic apheresis in its management.
In the conventional analysis of plasma phytanic acid, all lipids were first extracted in chloroform-methanol (1:1 by volume).
For patients with Refsum disease, phytanic acid [alpha]-oxidation can not take place because of a defect in the enzyme phytanoyl-CoA hydroxylase (EC 1.
DEX, a glucocorticoid; MED, a progestin; PHY, a precursor to phytanic acid
, an RXR and PPAR[alpha] activator; and DBP, a weak estrogen and antiandrogen, did not significantly alter uterine weights (Figure 1).
However, very little was known about the precise mechanism of the conversion of phytol to phytanic acid
until our discovery of the involvement of FALDH in this pathway.
From a diagnostic standpoint, the measurement of PA is considered as a supplementary test for peroxisomal diseases following the analysis of plasma very long chain fatty acids (VLCFAs), bile acids, phytanic acid
, and pristanic acid.