Refsum Disease, Infantile D052919

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.   MeSH

Phase 3 Indicated Drugs (1)

Other Experimental Indicated Drugs (2)


Organization Involved with Phase 3 Indications (2)

Organization Involved with Phase 2 Indications (1)

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UMLS Data


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