An early onset form of phytanic acid storage disease with clinical and biochemical signs different from those of REFSUM DISEASE. Features include MENTAL RETARDATION; SENSORINEURAL HEARING LOSS; OSTEOPOROSIS; and severe liver damage. It can be caused by mutation in a number of genes encoding proteins involving in the biogenesis or assembly of PEROXISOMES.
Also Known As:
Infantile Phytanic Acid Storage Disease; Refsum Disease, Infantile; Infantile Form of Phytanic Acid Storage Disease; Infantile Refsum's Disease; Refsum Disease, Infantile Form; Refsum's Disease, Infantile; Disease, Infantile Refsum; Disease, Infantile Refsum's; Infantile Refsums Disease; Refsums Disease, Infantile