INFORMATION ON PHYTANIC ACID STORAGE DISEASE

Phytanic Acid Storage Disease also named as peroxisomes biogenesis disorders is one of a small group of genetic diseases, which are part of a larger group of diseases called the leukodystrophies. Phytanic Acid Storage Disease is inherited conditions that can damage the white matter of the brain and affect motor movements.

SYNONYMS OF PHYTANIC ACID STORAGE DISEASE

1. Heredopathia Atactica Polyneuritiformis
2. Hypertrophic Neuropathy of Refsum
3. Phytanic Acid Storage Disease
4. Refsum Disease

CAUSES OF PHYTANIC ACID STORAGE DISEASE

The Phytanic Acid Storage Disease is caused by defects in the genes that are associated with the breakdown of Phytanic acid, a substance commonly found in foods. That result, toxic levels of Phytanic acid build up in the brain, blood, and other tissues.

SYMPTOMS OF PHYTANIC ACID STORAGE DISEASE

Symptoms of Phytanic Acid Storage Disease are:-

1. Visual impairment
2. Hearing problems
3. Rapid, jerky eye movements
4. Low muscle tone
5. Lack of muscle coordination
6. Slow mental growth
7. Mild abnormalities in the structure of the face
8. Enlargement of the liver
9. Low cholesterol level.

TREATMENT OF PHYTANIC ACID STORAGE DISEASE

The primary treatment for Phytanic Acid Storage Disease is to avoid foods that contain Phytanic acid, including dairy products; beef and lamb; and fatty fish such as tuna, cod, and haddock. Plasma exchange can be done in some infants and children in whom blood is drawn, filtered, and reinfused back into the body, to control the buildup of Phytanic acid.