Disorders of peroxisome biogenesis |
Zellweger syndrome |
Neonatal adrenoleukodystrophy (NALD) |
Infantile Refsum disease |
Rhizomelic chondrodysplasia punctata type 1 |
Disorders with deficiency of a single peroxisomal enzyme |
X-linked adrenoleukodystrophy, including adrenomyeloneuropathy (AMN) due to deficiency of adrenoleukodystrophy protein (ALDP) |
Refsum disease (phytanoyl CoA hydroxylase deficiency) |
Pseudo-NALD (acyl CoA oxidase deficiency) |
D-bifunctional enzyme deficiency |
Dihydroxy-acetone phosphate acyltransferase (DHAP-AT) deficiency (RCDP type 2) |
Alkyl-DHAP synthase deficiency (RCDP type 3) |
2-methylacyl-CoA racemase deficiency |
Acatalasemia (Catalase deficiency) |
Hyperoxaluria type 1 (alanine glyoxylate aminotransferase deficiency) |