infantil refsum disease
Engelsk navn: Infantile Refsum disease
Engelske synonym: IRD,Mild PBD-ZSD,Mild peroxisome biogenesis disorder-Zellweger spectrum disorder
Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS; see this term), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD) (see this term).