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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.

Year introduced: 2007

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Tree Number(s): C10.228.140.163.100.844, C16.320.565.189.844, C16.320.565.663.865, C18.452.132.100.844, C18.452.648.189.844, C18.452.648.663.865

MeSH Unique ID: D052919

Entry Terms:

  • Disease, Infantile Refsum
  • Infantile Form of Phytanic Acid Storage Disease
  • Infantile Phytanic Acid Storage Disease
  • Infantile Refsum Disease
  • Infantile Refsum's Disease
  • Disease, Infantile Refsum's
  • Infantile Refsums Disease
  • Refsum Disease, Infantile Form
  • Refsum's Disease, Infantile
  • Refsums Disease, Infantile

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