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Peroxisomal disorders

Peroxisomal disorders
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)
RCDP: rhizomelic chondrodysplasia punctata; DHAP: dihydroxy-acetone phosphate.
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