Adrenoleukodystrophy

Adrenoleukodystrophy is a rare hereditary disease that leads to serious neurological disorders in children and adults. This disease is caused by the body's inability to properly metabolize fatty acids, which leads to the accumulation of certain fatty acids in tissues and organs, including the brain and adrenal glands.

The main symptoms of adrenoleukodystrophy are progressive spastic paralysis of the legs and loss of sensation in the legs, insufficient functioning of the adrenal glands and small size of the gonads. These symptoms may begin in early childhood or adulthood and progress rapidly, leading to severe limitations in movement and coordination.

Adrenoleukodystrophy is classified as a rare disease, and according to studies, the disease occurs in one case in 20,000-50,000 newborn boys. Girls can also be carriers of the mutation, but they usually do not show symptoms of the disease. In men, the hereditary factor is transmitted along the X chromosome.

Adrenoleukodystrophy is characterized by the presence of abnormal fatty acid metabolism, which is of great importance for the further possible use of drug therapy. Moreover, it is possible to carry out prenatal diagnosis of this disease, which makes it possible to detect the presence of a genetic mutation in the fetus even before its birth.

Although there is no cure for adrenoleukodystrophy, there are treatments that can help slow the progression of the disease or relieve symptoms. Some of these include glucocorticoid replacement therapy and recombinant protein, which can help restore normal fatty acid metabolism in the body.

Although adrenoleukodystrophy is a serious disease, prenatal diagnosis and the development of new treatments may help improve the prognosis for patients with this disease in the future.

Adrenoleukodystrophy is an inherited genetic disorder that results in a variety of neurological problems, including spastic paralysis and adrenal insufficiency. It can occur in both children and adults, and is associated with a decrease in the production of adrenal hormones, which leads to low function of the gonads and other problems.

Adrenoleukodytrophy is caused by a deficiency of a certain enzyme called oleidase, which is responsible for breaking down the trienolic acid molecule that the body produces from fats. Without enough of this enzyme, trienolic acid can accumulate in the body and lead to dysfunction of certain organs, such as the adrenal glands and gonads.

One of the key factors in identifying this disease is the analysis of a person's pedigree. Parents can have diseases and pass on their genes to their children. DNA damage can be caused by genetic factors, as well as environmental or other causes. As a result of the examination, it is possible to determine whether there is a possibility

Adrenoleukotidrosia (adrenoleukosiuria) is a hereditary disease that leads to various neurological disorders in both childhood and adulthood. This rare disease develops due to a violation of the expression of the _ABCD11_ gene and manifests itself in the form of spastic paralysis of the legs, loss of sensation in the limbs and insufficient functioning of the cortex