Glycogenosis VII Type

Glycogenosis type VII: understanding and recent scientific advances

Glycogenosis type VII, also known as hepatophosphoglucomutase deficiency or Thomson's disease, is a rare inherited disorder that affects the body's handling of glycogen. In this article we will look at the main aspects of this disease, its causes, symptoms, diagnosis and treatment, and also discuss the latest scientific advances in this field.

Glycogenosis type VII is caused by a deficiency of the enzyme hepatophosphoglucomutase, which plays an important role in converting glycogen back to glucose in the liver. Patients with glycogenosis type VII have a deficiency of this enzyme, which leads to the accumulation of glycogen in the liver and muscles. As a result, there is a violation of the metabolism and energy supply of the body.

Symptoms of glycogenosis type VII may vary depending on the severity of the disease. However, the most common symptoms are muscle weakness, fatigue, and problems with physical activity. Some patients also suffer from hypoglycemia (low blood glucose), which can cause seizures, dizziness, and loss of consciousness.

Diagnosis of glycogenosis type VII involves analysis of the patient's genetic material to identify mutations in the gene responsible for the synthesis of hepatophosphoglucomutase. Laboratory tests are also performed to measure the levels of glycogen and other metabolites in the body.

Treatment for glycogenosis type VII is aimed at relieving symptoms and maintaining normal blood glucose levels. It is recommended to regularly consume high-carbohydrate foods that provide the body with glucose. For some patients, physical therapy may be prescribed to strengthen muscles and improve physical endurance.

Despite the fact that glycogenosis type VII is a rare disease, scientific research in this area is actively continuing. Recent research has focused on finding new diagnostic methods and developing more effective drugs. For example, gene therapy and genome editing technologies represent potentially promising approaches for the treatment of glycogenosis type VII.

In conclusion, glycogenosis type VII is a rare genetic disorder characterized by hepatophosphoglucomutase deficiency and glycogen accumulation in the body. Symptoms include muscle weakness, fatigue and hypoglycemia. Diagnosis is based on genetic analysis and measurement of glycogen levels. Treatment is aimed at relieving symptoms and maintaining normal blood glucose levels. Current research in the field of glycogenosis type VII strives to develop new diagnostic methods and effective drugs, including gene therapy and genome editing.

It is important to emphasize that the information provided in this article is a general overview of glycogenosis type VII. If you or your child suspect this disease, it is recommended to consult a medical specialist for more accurate diagnosis, advice and treatment.

Stay healthy and be vigilant about your body!

Glycogenosis is a hereditary disorder of carbohydrate metabolism associated with insufficient absorption or synthesis of glycogen in the body. Today, more than 20 types of glycogenosis are known, each of which is associated with certain genetic mutations. One of the most common and severe types is glycogenosis type VII, also known as Thomas disease.

Glycogenosis VII is a group of inherited metabolic diseases characterized by a deficiency of enzymes necessary for the metabolism and storage of glycogen. Thomas disease usually results from a deficiency of the phosphoglucomutase (PGAM) gene, which encodes the enzyme responsible for converting an abnormal glycolytic intermediate into a normal product. This enzyme breaks down galactose-1-phosphate, not found in normal glycogen molecules, and converts it into glucose and phosphate.

The disease is typical for males, but can also occur in women. The main clinical signs are lack of height, low weight, delayed psychomotor development, dysfunction of the pancreas, liver and heart. In typical cases, Thomas disease begins in childhood or early adolescence. A slowdown in growth and development begins, followed by a progressive increase in glycogen and lactate levels in the blood and urine. Jaundice, liver necrosis, pancreatitis, diabetes and cardiovascular problems are observed, leading to fatal stroke.