Mesh term Refsum Disease, Infantile
Browse to parent terms:Brain Diseases, Metabolic, Inborn
Peroxisomal Disorders
Description
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.Search for this term in our Faculty Database
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