Other terms
Disease, Infantile Refsum,Infantile Phytanic Acid Storage Disease,Infantile Refsum Disease,Refsum Disease, Infantile Form,Refsum's Disease, Infantile,Refsums Disease, Infantile,Infantile Form of Phytanic Acid Storage Disease,Infantile Refsum's Disease,Disease, Infantile Refsum's,Infantile Refsums Disease
Description
Refsum 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.
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