Disorders of Phytanic Acid aOxidation

Phytanic acid has been found to accumulate in different types of peroxisomal disorders including:

(i) Zellweger syndrome and the other disorders of peroxisome biogenesis,

(ii) Rhizomelic chondrodysplasia punctata type 1 and

(iii) Classical Refsum disease.

6.2.1. Zellweger Syndrome and Other Disorders of Peroxisome Biogenesis. We have found that phytanoyl-CoA hydroxylase (PhyH) is deficient in liver6 and fibroblasts (Jansen et al., in preparation) from patients suffering from a defect in peroxisome biogenesis. This follows logically from the fact that PhyH is a peroxisomal matrix enzyme which is targeted to peroxisomes via the PTS2 import route.

Indeed, all phytanoyl-CoA hydroxylases studied by us thus far, which includes human PhyH' the protein.

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