Refsum Disease, Infantile

**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.

**Tree numbers:** - 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

**Synonyms:** - Infantile Form of Phytanic Acid Storage Disease - Infantile Phytanic Acid Storage Disease - Infantile Refsum Disease - Infantile Refsum's Disease - Refsum Disease, Infantile Form - Refsum's Disease, Infantile