DISEASES

Disease-gene associations mined from literature

Human genes for infantile refsum disease

Infantile refsum disease [DOID:0050444]

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.

Synonyms:  infantile refsum disease,  DOID:0050444,  infantile refsum disorder,  infantile refsum syndrome,  INFANTILE PHYTANIC ACID STORAGE DISEASE ...