Tags: Disease.
Infantile Refsum disease (IRD) also called infantile phytanic acid storage disease is a rare autosomal recessive congenital peroxisomal biogenesis disorder within the Zellweger spectrum. These are disorders of the peroxisomes that are clinically similar to Zellweger syndrome and associated with mutations in the PEX family of genes. IRD is associated with deficient phytanic acid catabolism as is Adult Refsum disease but they are different disorders that should not be confused.
