Refsum Disease, Infantile

Synonyms

Disease, Infantile Refsum

Disease, Infantile Refsum's

Infantile Form of Phytanic Acid Storage Disease

Infantile Phytanic Acid Storage Disease

Infantile Refsum Disease

Infantile Refsum's Disease

Infantile Refsums Disease

Refsum Disease, Infantile Form

Refsum's Disease, Infantile

Refsums Disease, Infantile

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.