Infantile Refsum disease
ORPHA:772· ICD-10 G60.1
Definition
Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD).
- Prevalence
- Unknown
- Inheritance
- Autosomal recessive
- Age of onset
- All ages