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Refsum Disease, Infantile

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Definition: 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.  do not confuse with REFSUM DISEASE    Other names Refsums Disease, Infantile; Infantile Refsums Disease; Disease, Infantile Refsum's; Disease, Infantile Refsum; Refsum's Disease, Infantile; Refsum Disease, Infantile Form; Infantile Refsum's Disease; Infantile Phytanic Acid Storage Disease; Infantile Form of Phytanic Acid Storage Disease; Infantile Refsum Disease

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Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012
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