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Refsum Disease

Refsum Disease: Introduction

Refsum Disease: Refsum disease is a rare disorder of lipid metabolism that is inherited as a recessive trait. (Source: Genes and Disease by the National Center for Biotechnology) ... more about 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. More detailed information about the symptoms, causes, and treatments of Refsum Disease is available below.

Symptoms of Refsum Disease

Treatments for Refsum Disease

Home Diagnostic Testing

Home medical testing related to Refsum Disease:

Wrongly Diagnosed with Refsum Disease?

Refsum Disease: Related Patient Stories

Types of Refsum Disease

Refsum Disease: Complications

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Causes of Refsum Disease

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Disease Topics Related To Refsum Disease

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

Refsum Disease: Undiagnosed Conditions

Commonly undiagnosed diseases in related medical categories:

Misdiagnosis and Refsum Disease

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Mild traumatic brain injury often remains undiagnosed: Although the symptoms of severe brain injury are hard to miss, it is less clear for milder...read more »

MTBI misdiagnosed as balance problem: When a person has symptoms such as vertigo or dizziness, a diagnosis of brain injury may go overlooked. This is...read more »

Brain pressure condition often misdiagnosed as dementia: A condition that results from an excessive pressure of CSF within the brain is often misdiagnosed. It...read more »

Post-concussive brain injury often misdiagnosed: A study found that soldiers who had suffered a concussive injury in battle often were misdiagnosed on their return. A variety of...read more »

Children with migraine often misdiagnosed: A migraine often fails to be correctly diagnosed in pediatric patients. These patients are not the typical migraine sufferers, but migraines can also occur in children. See misdiagnosis of migraine...read more »

Vitamin B12 deficiency under-diagnosed: The condition of Vitamin B12 deficiency is a possible misdiagnosis of various conditions, such as multiple sclerosis (see symptoms of multiple...read more »

Refsum Disease: Research Doctors & Specialists

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Refsum Disease: Rare Types

Rare types of diseases and disorders in related medical categories:

Evidence Based Medicine Research for Refsum Disease

Medical research articles related to Refsum Disease include:

Click here to find more evidence-based articles on the TRIP Database

Refsum Disease: Animations

Prognosis for Refsum Disease

Prognosis for Refsum Disease: death usually occurs after a few years but timely treatment can be very helpful

Research about Refsum Disease

Visit our research pages for current research about Refsum Disease treatments.

Clinical Trials for Refsum Disease

The US based website ClinicalTrials.gov lists information on both federally and privately supported clinical trials using human volunteers.

Some of the clinical trials listed on ClinicalTrials.gov for Refsum Disease include:

Statistics for Refsum Disease

Refsum Disease: Broader Related Topics

Refsum Disease Message Boards

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User Interactive Forums

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Article Excerpts about Refsum Disease

Genes and Disease by the National Center for Biotechnology (Excerpt)

Refsum disease is a rare disorder of lipid metabolism that is inherited as a recessive trait. (Source: Genes and Disease by the National Center for Biotechnology)

NINDS Refsum Disease Information Page: NINDS (Excerpt)

Refsum disease is one of a group of genetic disorders called the leukodystrophies that affect growth of the myelin sheath, the fatty coveringówhich acts as an insulatoróon nerve fibers in the brain. Refsum disease is characterized by the abnormal accumulation of phytanic acid in blood plasma and tissues. (Phytanic acid is not made in the human body; it comes from the dietódairy products, beef, lamb, and some seafood). (Source: excerpt from NINDS Refsum Disease Information Page: NINDS)

Definitions of 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

 

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