Refsum Disease - What It Is, Symptoms and Treatmentswhich can not be ignored. In additionRefsum's diseaseis extremely rare and complex, and affects many parts of the body. Pigmentary retinitis (RP) is a common feature ofRefsum's disease. People withRefsum's diseaseare unable to metabolize phytanic acid. As a result ofDRefsum's interest, high levels of phytanic acid accumulate in the blood and tissues. It is believed that the disorders ofRefsum's diseaseassociated with harmful levels of phytanic acid. This substance is found in meats, fish and dairy products. The body also converts phytol, found in green leafy vegetables, into phytanic acid.
The child'sRefsum's diseaseis a disease that affects the peroxisomes, manifesting itself with retinitis pigmentosa and peripheral neuropathy. It belongs to the peroxisome diseases group, a subgroup of leukodystrophies. So, check outRefsum Disease - What It Is, Symptoms and Treatments.
Symptoms of Refsum Disease:The first symptom of RP is a commonRefsum's disease
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Cataracts are commonRefsum's disease, is also observed in patients withRefsum's disease. Cataracts make it difficult for the eye to see a turbidity in the eye which makes it difficult for light to reach the retina. In most cases, however, the cataract can be removed surgically. The extent of vision loss withRefsum's diseasevaries greatly, as it depends on phytanic acid levels and in the presence of cataracts.
In addition to changes in vision, individuals withRefsum's diseaseother 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 may occur in adulthood, usually after age 30..
Coronary heart disease, peripheral neuropathy (nervous disease that causes loss of sensation), ataxia (problems with balance), paresthesia (unusual tingling or burning sensation of the skin), ichthyosis (dry and scaly skin), anorexia (loss of appetite), and bone changes are also commonRefsum's disease.
Causes of Refsum Diseases:THERefsum's diseaseis hereditary as a recessive trait. atRefsum's diseasethe genes responsible for failure in phytanic acid metabolism were attributed to the short arm of chromosome 10 (10 pter-p11.2) and the long arm of chromosome 6 (6q22-q24). AtRefsum's disease,the chromosomes, which are present in the nucleus of human cells, have genetic information for each individual. The cells of the human body usually have 46 chromosomes. Pairs of human chromosomes are numbered from 1 to 22 and the sex chromosomes are designated X and Y. Males have one X and one Y chromosomes and two females with two X chromosomes.
Each chromosome has a short arm called "p" and a long arm called "q". The 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 terminal 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 the mother..
Diagnosis of Refsum Disease:THERefsum's diseaseis usually diagnosed in childhood or adolescence, when vision problems due to RP become apparent. Progressive vision loss begins when harmful levels of phytanic acid accumulate under the retina..
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Treatment of Refsum Disease:The treatment ofRefsum's diseaseis made by adopting a diet low in phytol and chlorophyll, as it helps to halt the progression ofRefsum's 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 phytanic acid stored in the body, increasing symptoms related toRefsum's disease.It is important to monitor the levels of phytanic acid in the bloodstream and to adjust dietary intake when necessary..
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