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; 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
Networked: 298 relevant articles (8 outcomes, 22 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Zellweger Syndrome (Zellweger's Syndrome)
2. Hereditary Sensory and Autonomic Neuropathies (HSAN)
3. Ataxia (Dyssynergia)
4. Ichthyosis (Xeroderma)
5. Hearing Loss (Hearing Impairment)


1. Wanders, Ronald J A: 10 articles (12/2020 - 02/2003)
2. Reiser, Georg: 9 articles (03/2016 - 10/2004)
3. Wanders, R J A: 8 articles (12/2007 - 07/2004)
4. Wierzbicki, Anthony S: 7 articles (01/2017 - 03/2002)
5. Schönfeld, Peter: 7 articles (03/2016 - 01/2004)
6. Waterham, Hans R: 5 articles (12/2020 - 02/2003)
7. Wajner, Moacir: 5 articles (06/2013 - 08/2010)
8. Kahlert, Stefan: 5 articles (11/2009 - 10/2004)
9. Wanders, R J: 5 articles (01/2009 - 01/2000)
10. Komen, J C: 5 articles (12/2007 - 07/2004)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Refsum Disease:
1. Phytanic AcidIBA
2. LipidsIBA
3. PhytolIBA
4. PlasmalogensIBA
5. ChlorophyllIBA
6. Riboflavin (Vitamin B2)FDA LinkGeneric
7. Serine (L-Serine)FDA Link
8. Brown-Vialetto-Van Laere syndromeIBA
9. Retinaldehyde (Retinal)IBA
10. Chanarin-Dorfman SyndromeIBA

Therapies and Procedures

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