Refsum Disease – What it is, Symptoms and Treatments
Refsum Disease – What it is, Symptoms and Treatments that cannot be ignored. Furthermore, Refsum disease is extremely rare and complex, and affects many parts of the body. Retinitis pigmentosa (RP) is a common feature of Refsum disease . People with Refsum disease are unable to metabolize phytanic acid. As a result of Refsum Disease , high levels of phytanic acid build up in the blood and tissues. Refsum disease disorders are thought to be associated with harmful levels of phytanic acid. This substance is found in meat, fish and dairy products. The body also converts phytol, found ingreen leafy vegetables , in phytanic acid.
The infantile form of Refsum ‘s disease is a disease that affects the peroxisomes, manifesting with retinitis pigmentosa and peripheral neuropathy. It belongs to the group of peroxisome diseases, a subgroup of leukodystrophies. Then check out Refsum Disease – What it is, Symptoms and Treatments.
Symptoms of Refsum Disease: The first common characteristic RP symptom of Refsum disease is night blindness followed by a gradual loss of peripheral vision . Night blindness makes it difficult to see in dark or poorly lit places. RP tends to progress slowly in patients with Refsum disease .
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Cataract , which is common in Refsum’s disease , is also seen in patients with Refsum’s disease . Cataracts make vision difficult because of a cloudiness in the eye which makes it difficult for light to reach the retina . In most cases, however, the cataract can be surgically removed. The extent of vision loss with Refsum’s disease varies greatly as it depends on phytanic acid levels and the presence of cataracts .
In addition to changes in vision , individuals with Refsum disease have other sensory complications. Loss of smell (anosmia) usually occurs in childhood but may remain undiagnosed until other more pronounced symptoms become apparent. Sudden or gradual hearing loss can occur in adulthood, usually after age 30.
Coronary heart disease, peripheral neuropathy (nerve disease causing loss of sensation), ataxia (problems with balance), paresthesia (unusual tingling or burning sensation in the skin), ichthyosis (dry, flaky skin), anorexia (loss of appetite), and changes Bones are also common in Refsum disease .
Causes of Refsum Diseases: Refsum disease is inherited as a recessive trait. in Refsum disease the genes responsible for the failure of phytanic acid metabolism were assigned to the short arm of chromosome 10 (10 pter-p11.2) and to the long arm of chromosome 6 (6q22-q24). In Refsum’s disease, the chromosomes, which are present in the nucleus of human cells, hold the genetic information for each individual. Cells in the human body normally have 46 chromosomes. Human chromosome pairs are numbered from 1 to 22 and the sex chromosomes are designated X and Y. Males have one X and one Y chromosome and two females have two X chromosomes.
Each chromosome has a short arm designated “p” and a long arm designated “q”. Chromosomes are subdivided into several numbered bands. For example, “chromosome 6q22” refers to band 22 on the long arm of chromosome 6. The notation “10pter” refers to the end or terminus of the short arm of chromosome 10. The numbered bands specify the location of the thousands of genes that are present on each chromosome. Genetic diseases are determined by the combination of genes for a particular trait that is on the chromosomes received from the father and mother.
Diagnosis of Refsum’s Disease: Refsum ‘s disease is usually diagnosed in childhood or adolescence, when vision problems due to RP become apparent. Progressive vision loss begins when harmful levels of phytanic acid build up under the retina .
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Treatment of Refsum Disease: Treatment of Refsum disease is done by adopting a diet low in phytol and chlorophyll as it helps to halt the progression of Refsum disease as well as the severity of other complications associated with the disease in question. In addition, weight maintenance is important as weight loss leads to the release of stored phytanic acid in the body, increasing symptoms related to Refsum disease. It is important to monitor the levels of phytanic acid in the bloodstream and adjust the diet when necessary.