Which of the following metabolic disorders is characterized by an accumulation of very long-chain fatty acids in the blood and tissues?

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

Explanation

Adrenoleukodystrophy is a genetic disorder caused by a deficiency of the enzyme acyl-CoA synthetase, leading to an accumulation of very long-chain fatty acids.

Mnemonic

'Adreno' = adrenal glands affected

Source

Orphanet Journal of Rare Diseases
Metabolic and Nutritional Disorders Genetic Disorders Peroxisomal Disorders Medium MEDICAL Confidence: medium