Which of the following metabolic disorders is characterized by an inability to break down phytanic acid, resulting in peripheral neuropathy and retinitis pigmentosa?

A Refsum disease ✓
B Zellweger syndrome
C Adrenoleukodystrophy
D Batten disease

Explanation

Refsum disease is a rare genetic disorder caused by a deficiency of the enzyme phytanoyl-CoA hydroxylase, leading to accumulation of phytanic acid in tissues.

Source

OMIM database
Metabolic and Nutritional Disorders Genetic Metabolic Disorders Peroxisomal Disorders Hard MEDICAL Confidence: medium