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