Glycogenosis Vi Type

Glycogenosis is a group of hereditary diseases caused by impaired carbohydrate metabolism in the body. Glycogenosis type VI is a rare disease that is characterized by high levels of glycogen (carbohydrates that are stored in the muscles and liver) in the tissues. In this article we will look at the causes, symptoms and treatment of this disease.

Gliko

Glycogenoses are a group of hereditary metabolic diseases associated with impaired carbohydrate and energy metabolism, because glycogen, being the body's main reserve energy resource, cannot be used as an energy source. The most common among glycogen diseases are congenital fructose intolerance - Gaucher disease, Hurler syndrome, glycogenosis 1A. During human life, errors accumulate in the genome and the stage of aging begins. Glycogenosis is one of the hereditary diseases that may be associated with the accumulation of excess glycogen (in muscles, liver, heart or other organs).

One of the most common glycogenoses is diabetes mellitus, but there are other glycogenoses. They can cause a variety of symptoms, including fatigue, weakness, slow speech, and delayed growth and development in children who suffer from glycogen storage disease. It is typical for him: if a child plays energetically, he soon begins to get tired and only after some time his activity can resume. This condition appears from childhood, sometimes children turn pale while playing, and in adulthood they can gain weight. Another characteristic feature of this disease is excessive weakness. People with this diagnosis have different forms of discomfort in different parts of the body. It can occur simultaneously in all or in every affected muscle, body part, or organ. The disease is very often aggravated by severe complications from the cardiovascular system. The severity of glycogenosis manifestations depends on its type. For example, type I disease most often manifests itself from the first months of a baby’s life, and with type III it practically does not manifest itself until the person reaches old age. Type I glycogenosis is the most common. This is especially true in cases where there are serious disorders in the liver. Liver dystrophy intensifies, the spleen increases in size, the skin becomes dark due to the release of pigment from pathologically changed internal organs (for example, from the pancreas and intestines due to impaired absorption in them), the child has edema and impaired appetite. Body temperature is not stable, periods of hyperthermia are possible. Heart and liver failure develops. This is a serious condition in which a person cannot survive without the support of loved ones. Hemolytic anemia is also typical for this type of glycogenosis; according to statistics, every third patient with this type of glycogenosis develops hemolytic disease.