Refsum Disease – What is the most important cause?

Biochemistry – The Biochemistry Online – Free Online Lectures for Medical, Dental and Allied Health Sciences students by the Biochemistry Club.

Alpha Oxidation of Fatty acids

Alpha Oxidation

Phytanic acid is a branched chain Fatty acid with a methyl group at its β-Carbon.

Phytanic acid cannot be oxidized by acyl CoA dehydrogenase because of the methyl group on its β-carbon.

 Instead, it is hydroxylated at the α-carbon by Phytanoyl CoA α-hydroxylase (PhyH).

The Carbon at the position no. 1 is released as CO₂, and the product, 19-carbon pristanal, is oxidized to pristanic acid, which is then activated to its CoA derivative and then undergoes β-oxidation.

Refsum Disease

Refsum disease is a rare, autosomal recessive disorder caused by a deficiency of peroxisomal Phytanoyl CoA α-hydroxylase (PhyH).

This results in the accumulation of phytanic acid in the plasma and tissues.

The symptoms are primarily neurologic, and the treatment involves dietary restriction to halt disease progression.

All these lectures are organized and listed in detail in their proper sections. To view these lessons please visit the Metabolism of Lipids Section in Biochemistry II. This can be approached by directly clicking the Biochemistry II button or it can also be approached from the drop down menu in Biochemistry II tab. Once you reach the section click the curriculum tab to view the full list in the section.
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