Refsum Syndrome

Refsum syndrome: description, causes and treatment

Refsum syndrome, also known as phytanidione disease, is a rare inherited disorder that causes a buildup of fatty acids in the body. This disease is named after the Norwegian neurologist Sigvald Waldascher Refsum, who described it in 1946.

Refsum syndrome is caused by a genetic defect that causes the body to process fatty acids improperly. Normally, fatty acids are broken down in the mitochondria, but in people with Refsum syndrome this process is disrupted due to a lack of the enzyme needed to complete it. As a result, fatty acids begin to accumulate in the body's tissues, which can cause various health problems.

Symptoms of Refsum syndrome may include vision loss, muscle weakness, sensory disturbances, joint pain, heart rhythm problems, and hearing problems. Some patients may also have severe curvature of the spine.

Various methods are used to diagnose Refsum syndrome, including biochemical blood and urine tests, as well as genetic tests. Treatment for this disease is aimed at reducing the level of fatty acids in the body. This can be achieved through a diet that includes limiting the consumption of foods rich in fatty acids, as well as taking special supplements. Some patients may also require medication and physical rehabilitation.

Although Refsum syndrome is a rare condition, its diagnosis and treatment can be complex and require specialized medical care. If you suspect you have this disease, consult your doctor for further advice and treatment.

Refsum syndrome (from the Swedish Refsum - the name of the island and the suffix "-um") is a term used in neurology to describe a complex of signs and symptoms that occur in patients with genetic disorders that are associated with lipid metabolic processes.

The syndrome was first described by Walter Refsum in 1882 and named after him in 1917. He reports cases of severe forms of early development - severe intellectual retardation, severe ataxia, visual disturbances leading to blindness. Neurological symptoms usually appear before the age of twenty and may include myoclosus