Which of the following fatty acids is primarily responsible for the development of Refsum's disease, a rare genetic disorder?

A Oleic acid

B Linoleic acid

C Phytanic acid ✓

D Arachidonic acid

Explanation

Refsum's disease is a rare genetic disorder caused by the accumulation of phytanic acid, a branched-chain fatty acid, due to a deficiency in the enzyme alpha-oxidase.

Source

Scriver's The Metabolic and Molecular Bases of Inherited Disease

Metabolic and Nutritional Disorders Genetic Disorders Refsum's Disease Hard MEDICAL Confidence: high

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Which of the following fatty acids is primarily responsible for the development of Refsum's disease, a rare genetic disorder?

Explanation

Source

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