Infantile Refsum Disease

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.

Also Known As:

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

Nervous System Diseases: 14178
- Central Nervous System Diseases: 4213
  - Brain Diseases: 15694
    - Metabolic Brain Diseases: 215
      - Inborn Metabolic Brain Diseases: 2
        Infantile Refsum Disease: 78
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Inborn Errors Metabolism: 1162
    - Peroxisomal Disorders: 504
      - Infantile Refsum Disease: 78
    - Inborn Metabolic Brain Diseases: 2
      - Infantile Refsum Disease: 78
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Inborn Errors Metabolism: 1162
    - Peroxisomal Disorders: 504
      - Infantile Refsum Disease: 78
    - Inborn Metabolic Brain Diseases: 2
      - Infantile Refsum Disease: 78
  - Metabolic Brain Diseases: 215
    - Inborn Metabolic Brain Diseases: 2
      - Infantile Refsum Disease: 78

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Disease

Drug/Important Bio-Agent (IBA)