Refsum Disease (Refsum's 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; HMSN 4; Hemeralopia Heredoataxia Polyneuritiformis; Hereditary Motor and Sensory Neuropathy, Type IV; Hereditary Type IV Motor and Sensory Neuropathy; Refsum Disease, Phytanic Acid Oxidase Deficiency; Refsum Disease, Phytanoyl-CoA Hydroxylase Deficiency; Refsum's Syndrome; Refsum-Thiebaut Syndrome; Disease, Refsum; Disease, Refsum's; Heredoataxia Polyneuritiformis, Hemeralopia; Polyneuritiformis, Hemeralopia Heredoataxia; Polyneuritiformis, Heredopathia Atactica; Refsum Disease, Phytanoyl CoA Hydroxylase Deficiency; Refsum Thiebaut Syndrome; Refsum-Thiebaut Syndromes; Refsums Disease; Refsums Syndrome; Syndrome, Refsum-Thiebaut; Syndromes, Refsum-Thiebaut; HMSN Type IV; Neuropathy, Hereditary Motor and Sensory, Type IV
Networked: 231 relevant articles (4 outcomes, 16 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Zellweger Syndrome (Zellweger's Syndrome)
2. Refsum Disease (Refsum's Disease)
3. Chondrodysplasia Punctata (Stippled Epiphyses)
4. Fabry Disease (Fabry's Disease)
5. Lipidoses


1. Wanders, Ronald J A: 8 articles (09/2011 - 02/2003)
2. Reiser, Georg: 8 articles (08/2011 - 10/2004)
3. Wanders, R J A: 8 articles (12/2007 - 07/2004)
4. Wierzbicki, Anthony S: 6 articles (11/2010 - 03/2002)
5. Schönfeld, Peter: 6 articles (07/2006 - 01/2004)
6. Wajner, Moacir: 5 articles (06/2013 - 08/2010)
7. Kahlert, Stefan: 5 articles (11/2009 - 10/2004)
8. Wanders, R J: 5 articles (01/2009 - 01/2000)
9. Komen, J C: 5 articles (12/2007 - 07/2004)
10. Jansen, G A: 5 articles (04/2005 - 01/2000)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Refsum Disease:
1. Phytanic AcidIBA
2. PhytolIBA
3. ChlorophyllIBA
4. Protons (Proton)IBA
5. Ethyl Ether (Ether)IBA
6. Acetyl-CoA C-Acyltransferase (beta Ketothiolase)IBA
7. phytanoyl-coenzyme A (phytanoyl CoA)IBA
8. Fatty Acids (Saturated Fatty Acids)IBA
9. Retinaldehyde (Retinal)IBA
10. pipecolic acidIBA
10/01/1995 - "We present here genome wide linkage analysis of an atypical Refsum disease family where L-pipecolic acid level in blood was also increased, suggesting that the patients suffer from a new peroxisomal disorder intermediate between ARD and Infantile Refsum Disease (IRD, a peroxisomal deficiency disease). "
02/01/1988 - "Our data suggest that some patients with the infantile form of Refsum disease may show some clinical benefit from dietary management and this is reflected biochemically by decreases in the plasma levels of phytanic acid and pipecolic acid."
08/01/1986 - "In recent years a number of biochemical abnormalities have been described in patients with the infantile form of Refsum disease, including the accumulation of very long chain fatty acids, trihydroxycoprostanoic acid and pipecolic acid. "
12/01/1984 - "The plasma of patients with the infantile but not the adult form of Refsum's disease contains increased amounts of pipecolic acid and of at least two abnormal bile acids, one of which has been identified as 3 alpha, 7 alpha, 12 alpha trihydroxy-5 beta-cholestan-26-oic acid. "
04/01/1988 - "In this study we carried out a detailed investigation into different peroxisomal functions in classical Refsum's disease by analyses of plasma (very long chain fatty acids, di- and trihydroxycoprostanoic acid and pipecolic acid) and cultured skin fibroblasts from the patients (de novo plasmalogen biosynthesis, very long chain fatty acid oxidation and amount of particle-bound catalase). "

Therapies and Procedures

1. Plasmapheresis
2. Cochlear Implantation
3. Plasma Exchange
4. Blood Component Removal (Apheresis)
5. Ketogenic Diet