Version June 2024
| Disorders of peroxisome biogenesis |
| Zellweger spectrum disorders (ZSD)* |
| RCDP types 1 and 5 |
| Disorders with deficiency of a single peroxisomal enzyme |
| ACBD5 (acyl-CoA-binding domain type 5) deficiency |
| ACOX-1 (acyl CoA oxidase) deficiency |
| ACOX-2 deficiency |
| AMACR (2-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 (dihydroxy-acetone phosphate acyltransferase [DHAP-AT] deficiency) |
| RCDP type 3 (alkyl-DHAP synthase deficiency) |
| RCDP type 4 (fatty acyl-CoA reductase 1 [FAR1] deficiency) |
| 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 |
DHAP: dihydroxy-acetone phosphate; 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 adrenoleukodystophy [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.آیا می خواهید مدیلیب را به صفحه اصلی خود اضافه کنید؟
