Rare Zebra

Rare disease search prototype built on Orphanet data

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ORPHA:2971

Peroxisomal acyl-CoA oxidase deficiency

Also called Pseudo-NALD, Pseudo-neonatal adrenoleukodystrophy, Pseudoadrenoleukodystrophy

Body system
Inborn errors of metabolism
Inheritance pattern
Autosomal recessive
Typical age of onset
Neonatal
Estimated prevalence
<1 / 1 000 000 (Worldwide)
Rarity class
<1 / 1 000 000

ORPHA:2971 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.

Common signs

  • Sensorineural hearing impairment
  • Abnormal electroretinogram
  • Abnormality of visual evoked potentials
  • Hypodontia
  • Seizure
  • Hypotonia