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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Subheadings:
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 Phytanic Acid Storage Disease
- Refsum's Disease, Infantile
- Refsums Disease, Infantile
- Infantile Refsum's Disease
- Disease, Infantile Refsum's
- Infantile Refsums Disease
- Refsum Disease, Infantile Form
- Infantile Form of Phytanic Acid Storage Disease
- Infantile Refsum Disease
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