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Diseases » Refsum Disease » Summary

What is Refsum Disease?

What is Refsum Disease?

  • Refsum Disease: A metabolic disorder where a deficiency of phytanic acid alpha-hydroxylase results in a buildup of phytanic acid in the body which causes neurological disorders.
  • Refsum Disease: An autosomal recessive familial disorder that usually presents in childhood with POLYNEUROPATHY, sensorineural DEAFNESS; ICHTHYOSIS; ATAXIA; RETINITIS PIGMENTOSA; and cardiomyopathy. CEREBROSPINAL FLUID PROTEINS and serum PHYTANIC ACID are generally elevated. This condition is associated with the impaired metabolism of phytanic acid in PEROXISOMES. (From Joynt, Clinical Neurology, 1991, Ch37, p58-9; Rev Med Interne 1996;17(5):391-8)
    Source - Diseases Database

Refsum Disease is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Refsum Disease, or a subtype of Refsum Disease, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Refsum Disease as a "rare disease".
Source - Orphanet

Refsum Disease: Introduction

Types of Refsum Disease:

Types of Refsum Disease:

Broader types of Refsum Disease:

Who gets Refsum Disease?

Patient Profile for Refsum Disease: Usually by 20, but from childhood to 50 is possible.

Profile for Refsum Disease: Onset of Refsum disease varies from early childhood to age 50, however, symptoms usually appear by age 20. The disorder affects both males and females. (Source: excerpt from NINDS Refsum Disease Information Page: NINDS)

How serious is Refsum Disease?

Prognosis of Refsum Disease: death usually occurs after a few years but timely treatment can be very helpful
Complications of Refsum Disease: see complications of Refsum Disease
Prognosis of Refsum Disease: The prognosis for individuals with Refsum disease varies. With treatment, symptoms of peripheral neuropathy and ichthyosis generally disappear. However, treatment cannot undo the damage to vision and hearing. (Source: excerpt from NINDS Refsum Disease Information Page: NINDS)

What causes Refsum Disease?

Causes of Refsum Disease: see causes of Refsum Disease
Cause of Refsum Disease: Accumulation of phytanic acid in body tissues.
Causes of Refsum Disease: Refsum disease is characterized by an accumulation of phytanic acid in the plasma and tissues. is a derivative of phytol, a component of chlorophyll. (Source: Genes and Disease by the National Center for Biotechnology)

What are the symptoms of Refsum Disease?

Symptoms of Refsum Disease: see symptoms of Refsum Disease

Complications of Refsum Disease: see complications of Refsum Disease

Onset of Refsum Disease: usually 4-7 years of age

Can anyone else get Refsum Disease?

Contagion of genetic conditions: generally not; see details in contagion of genetic diseases.
Inheritance: see inheritance of Refsum Disease

Inheritance of genetic conditions: see details in inheritance of genetic diseases.

Refsum Disease: Testing

Diagnostic testing: see tests for Refsum Disease.

Misdiagnosis: see misdiagnosis and Refsum Disease.

How is it treated?

Doctors and Medical Specialists for Refsum Disease: Neurologist ; see also doctors and medical specialists for Refsum Disease.
Treatments for Refsum Disease: see treatments for Refsum Disease
Research for Refsum Disease: see research for Refsum Disease

Organs Affected by Refsum Disease:

Organs and body systems related to Refsum Disease include:

Name and Aliases of Refsum Disease

Main name of condition: Refsum Disease

Class of Condition for Refsum Disease: genetic

Other names or spellings for Refsum Disease:

Phytanic Acid Storage Disease, Heredopathia Atactica Polyneuritiformis, Refsum Thiebaut syndrome, ataxia hereditaria-hemeralopia polyneuritiformis, hemeralopia heredoataxia polyneuritiformis, heredopathia atactica polyncueritiformis, phytanic acid storage, Phytanic acid oxidase deficiency, hereditary motor and sensory neuropathy type 4 (HMSN 4), Herditary sensory and motor neuropathy, HMSN 4, DOC 11 [Phytanic acid type], Disorder of cornification 11 [Phytanic acid type]

HSMN type 4, Hereditary sensorimotor neuropathy type 4, Hereditary sensory-motor neuropathy type 4, Phytanic acid oxidase deficiency, Phytanic acid storage disease, Phytanoyl-CoA hydroxylase deficiency Source - Diseases Database

HMSN IV, Herditary sensory and motor neuropathy, Heredopathia atactica polyneuritiformis, Phytanic acid storage disease, Phytanic acid storage disease, HMSN IV, Herditary sensory and motor neuropathy, HMSN IV, Herditary sensory and motor neuropathy, Heredopathia atactica polyneuritiformis
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

Refsum Disease: Related Conditions

Research the causes of these diseases that are similar to, or related to, Refsum Disease:


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