2.1.b

Disorders of peroxisomal fatty acid oxidation

  • X-linked adrenoleukodystrophy
  • Peroxisomal straight-chain acyl-CoA oxidase deficiency (Pseudo-neonatal adrenoleukodystrophy)
  • D-bifunctional protein deficiency (Pseudo-Zellweger syndrome, severe; Perrault syndrome type 1, milder)
  • L-bifunctional protein deficiency (Fanconi renotubular syndrome type 3)
  • Sterol carrier protein 2 deficiency (Leukoencephalopathy with dystonia and motor neuropathy)
  • Phytanoyl-CoA hydroxylase deficiency (Classic Refsum disease)

Subnetworks

PD 1 1

PD

Peroxisomal and lipid-related disorders

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