Refsum Disease

An autosomal recessive familial disorder that usually presents in childhood with POLYNEUROPATHY; SENSORINEURAL HEARING LOSS; ICHTHYOSIS; ATAXIA; RETINITIS PIGMENTOSA; and CARDIOMYOPATHIES. (From Joynt, Clinical Neurology, 1991, Ch37, p58-9; Rev Med Interne 1996;17(5):391-8) This condition can be caused by mutation in the genes encoding peroxisomal phytanoyl-CoA hydroxylase or proteins associated peroxisomal membrane, leading to impaired catabolism of PHYTANIC ACID in PEROXISOMES.

Also Known As:

Refsum's Disease; Refsum Syndrome; Syndrome, Refsum's; Heredopathia Atactica Polyneuritiformis; Phytanic Acid Storage Disease; Adult Refsum Disease; Classic Refsum Disease; HMSN 4; HMSN IV; Hemeralopia Heredoataxia Polyneuritiformis; Hereditary Motor And Sensory Neuropathy IV; Hereditary Motor and Sensory Neuropathy Type IV; Hereditary Motor and Sensory Neuropathy, Type IV; Hereditary Type IV Motor and Sensory Neuropathy; Phytanic Acid Oxidase Deficiency; Refsum Disease, Adult; Refsum Disease, Classic; Refsum Disease, Phytanic Acid Oxidase Deficiency; Refsum Disease, Phytanoyl-CoA Hydroxylase Deficiency; Refsum's Syndrome; Refsum-Thiebaut Syndrome; Adult Refsum Diseases; Classic Refsum Diseases; Disease, Adult Refsum; Disease, Classic Refsum; Disease, Refsum; Disease, Refsum's; Diseases, Adult Refsum; Diseases, Classic Refsum; HMSN IVs; Heredoataxia Polyneuritiformis, Hemeralopia; Polyneuritiformis, Hemeralopia Heredoataxia; Polyneuritiformis, Heredopathia Atactica; Refsum Disease, Phytanoyl CoA Hydroxylase Deficiency; Refsum Diseases, Adult; Refsum Diseases, Classic; Refsum Thiebaut Syndrome; Refsum-Thiebaut Syndromes; Refsums Disease; Refsums Syndrome; Syndrome, Refsum; Syndrome, Refsum-Thiebaut; Syndromes, Refsum-Thiebaut; HMSN Type IV; Neuropathy, Hereditary Motor and Sensory, Type IV

Nervous System Diseases: 14737
- Neurodegenerative Diseases: 44095
  - Nervous System Heredodegenerative Disorders: 62
    - Hereditary Sensory and Motor Neuropathy: 260
      - Refsum Disease: 276
- Central Nervous System Diseases: 4371
  - Brain Diseases: 16141
    - Metabolic Brain Diseases: 218
      - Inborn Metabolic Brain Diseases: 2
        Refsum Disease: 276
- Neuromuscular Diseases: 2048
  - Peripheral Nervous System Diseases: 11768
    - Polyneuropathies: 5219
      - Hereditary Sensory and Motor Neuropathy: 260
        Refsum Disease: 276
- Nervous System Malformations: 36
  - Hereditary Sensory and Motor Neuropathy: 260
    - Refsum Disease: 276
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Congenital Abnormalities: 26404
  - Nervous System Malformations: 36
    - Hereditary Sensory and Motor Neuropathy: 260
      - Refsum Disease: 276
- Inborn Genetic Diseases: 12342
  - Inborn Errors Metabolism: 1183
    - Peroxisomal Disorders: 509
      - Refsum Disease: 276
    - Inborn Metabolic Brain Diseases: 2
      - Refsum Disease: 276
  - Nervous System Heredodegenerative Disorders: 62
    - Hereditary Sensory and Motor Neuropathy: 260
      - Refsum Disease: 276
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10634
  - Inborn Errors Metabolism: 1183
    - Peroxisomal Disorders: 509
      - Refsum Disease: 276
    - Inborn Metabolic Brain Diseases: 2
      - Refsum Disease: 276
  - Metabolic Brain Diseases: 218
    - Inborn Metabolic Brain Diseases: 2
      - Refsum Disease: 276

E M Hogenhout Selected Research

E M Hogenhout Research Topics

Disease

Drug/Important Bio-Agent (IBA)