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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)

Experts

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)