Version July 2025
| Disorders of peroxisome biogenesis |
| Zellweger spectrum disorders (ZSD)* |
| RCDP types 1 and 5 |
| Disorders with deficiency of a single peroxisomal enzyme or protein |
| ACBD5 (acyl-CoA-binding domain type 5) deficiency |
| ACOX1 (acyl CoA oxidase 1) deficiency |
| ACOX 1 upregulation |
| ACOX2 deficiency |
| AMACR (alpha-methylacyl-CoA racemase) deficiency |
| BAAT (bile acid-CoA: amino acid N-acyltransferase) deficiency |
| DBP (D-bifunctional protein) deficiency |
| Glycolate oxidase deficiency |
| PMP70 (peroxisomal membrane protein 70) deficiency |
| Primary hyperoxaluria type 1 (alanine glyoxylate aminotransferase deficiency) |
| RCDP type 2 (glyceronephosphate O-acyltransferase [GNPAT] deficiency) |
| RCDP type 3 (alkylglycerone phosphate synthase [AGPS] deficiency) |
| RCDP type 4 (fatty acyl-CoA reductase 1 [FAR1] deficiency) |
| FAR1 upregulation |
| Refsum disease (phytanoyl CoA hydroxylase deficiency) |
| SCPX (sterol carrier protein X) deficiency |
| X-linked adrenoleukodystrophy (X-ALD) |
| Disorders of peroxisome division |
| These are rare disorders caused by mutations in PEX11 beta, DLP1/DNML1, MFF, or GDAP1 |
DLP1: dynamin-1-like protein; GDAP1: ganglioside-induced differentiation-associated protein 1; MFF: mitochondrial fission factor; PEX11: peroxisome biogenesis factor 11; RCDP: rhizomelic chondrodysplasia punctata.
* ZSD represents a spectrum of disorders that includes classical Zellweger syndrome (the most severe form) and other milder variants. Some conditions included in this category were previously considered separate disorders (eg, neonatal adrenoleukodystrophy [NALD] and infantile Refsum disease [IRD]). However, since NALD and IRD are caused by the same genetic variants as ZSD (PEX1 and PEX6) with a similar constellation of clinical and laboratory findings, they are now considered part of ZSD.