Peroxisomal disorders

Peroxisomes are intracellular organelles involved in the breakdown of very long chain fatty acids mainly through beta oxidation.

These disorders are often divided whether they are involved in peroxisomal biogenesis or single peroxisomal protein deficiencies.

Group A: Peroxisomal Biogenesis Disorders

1. Zellwegger spectrum disorders

a. Zellweger syndrome

b. Peroxisome biogenesis disorder 1B

i. Neonatal adrenoleukodystrophy

ii. Infantile Refsum disease

Group B: Peroxisomal Beta-oxidation Disorders

1. Peroxisomal acyl-CoA oxidase deficiency

2. D-Bifunctional protein (DBP) deficiency

3. Peroxisomal thiolase deficiency

4. X-linked adrenoleukodystrophy

Group C

1. Rhizomelic Chondrodysplasia Punctata spectrum

Group D: Remaining Disorders (No Specific MRI Findings)

1. Refsum disease

2. Alpha-methylacyl-CoA racemase (AMACR) deficiency

3. Peroxisomal sterol carrier protein X (SCPx) deficiency