INFORMATION ON REFSUM DISEASE

Refsum's disease is a rare autosomal recessive condition it is one of a group of genetic disorders called the leukodystrophies that affect growth of the myelin sheath, the fatty covering which acts as an insulator on nerve fibers in the brain. Refsum disease is characterized by the abnormal accumulation of phytanic acid in blood plasma and tissues.
Refsum Disease affects less than 200,000 people in the US population.
Refsum disease is a rare disorder of lipid metabolism that is inherited as a recessive trait.

SYNONYMS OF REFSUM DISEASE

Some of the keywords or Synonyms are:
Hypertrophic Neuropathy of Refsum
Acid Storage Disease
Phytanic Acid Storage Disease
Peripheral polyneuropathy
Retinitis pigmentosa

CAUSES OF REFSUM DISEASE

The main causes are:

1. It is inherited from parental and transfer to the child.
2. Absence of absence of peroxisome cells in the body.
3. The peroxisome is responsible for the breakdown of certain branched chain fatty acids
4. High levels of phytanic acid build up in the bloodstream and in tissues, causing neurological and ophthalmologic damage.

SYMPTOMS OF REFSUM DISEASE

Signs and symptoms for Refsum Disease includes those listed below

1. Vision impairments
2. Retinitis pigmentosa
3. Peripheral neuropathy
4. Ataxia
5. Impaired hearing
6. Bone changes
7. Skin changes
8. Night blindness followed by a gradual loss of peripheral vision.

DIAGNOSIS OF REFSUM DISEASE

Diagnosis can be done as under:

1. The level of phytanic acid in the blood and tissues can be measured.
2. Specific tests can be done looking for the broken gene that causes the disease.
3. Examine of electrocardiogram is done to determine if the heart is affected by Refsum disease
4. Diagnosed though a combination of consistent medical history, physical exam findings, and laboratory and genetic testing.

TREATMENT OF REFSUM DISEASE

The primary treatment for Infantile Refsum is to avoid foods that contain phytanic acid, including dairy products; beef and lamb; and fatty fish such as tuna, cod, and haddock.
It also includes restricting foods that contain phytanic acid. Plasmapheresis may also be required.
Individuals with Refsum disease should have their heart monitored regularly by a physician. A neurologist can evaluate and monitor individuals with peripheral neuropathy and ataxia. Lotions may help control skin problems.