Which of the following is a characteristic feature of Refsum disease, a rare genetic disorder?

A Accumulation of very-long-chain fatty acids
B Deficiency of medium-chain acyl-CoA dehydrogenase
C Excess of phytanic acid ✓
D Deficiency of carnitine palmitoyltransferase

Explanation

Refsum disease is characterized by the accumulation of phytanic acid, a branched-chain fatty acid, due to a deficiency of the enzyme phytanoyl-CoA hydroxylase.

Source

OMIM database
Metabolic and Nutritional Disorders Genetics Inborn Errors of Metabolism Hard MEDICAL Confidence: high