Maple Syrup Disease

Maple syrup disease is a rare genetic disease that is caused by a metabolic disorder. It is characterized by the accumulation in the blood and tissues of the body of a special protein - bruncine, which causes disruption of body functions.

Clemsey disease causes a variety of symptoms, including jaundice, difficulty breathing, weight loss, increased appetite, irritability, vomiting and diarrhea. Bone growth disorders, frequent respiratory tract infections, and vision and hearing problems are also possible.

Clemsey's disease is caused by a defect in the gene that produces the enzyme brunsin. This gene is located on the X chromosome, so the disease is inherited through the female line. Typically, the pathology manifests itself in girls in the first years of life. This is due to the fact that during puberty the level of testosterone in the blood serum increases, as a result, the likelihood of passing the defective gene from mother to daughter increases.

Treatment for Clems disease includes dietary restrictions (avoiding foods containing brunsin) as well as the use of medications to improve gastrointestinal function. Some patients may also require surgery. The prognosis for Claycey disease depends on the severity of symptoms, the general condition of the patient and proper treatment. If the disease is detected in a timely manner and treatment is started, there is a chance of recovery, but the possibility of conception and childbearing in women with this diagnosis is low.

Maple syrup (deficiency) disease is an inherited disease caused by a mutation in the gene encoding the enzyme neuraminidase.

Characteristic features: loss of body weight, weakness and lethargy, in children - delayed psychomotor and speech development. Clinical manifestations are characterized by metabolic disorders in the body, which leads to dysfunction of internal organs. The disease is inherited, from parents to male children. In women, the trait can be passed on in the family, inherited through the maternal line. This developmental defect occurs both as an independent genetic disease and as part of many other hereditary syndromes. The symptoms and picture of the disease directly depend on which part of the gene responsible for the synthesis of the necessary enzyme has been damaged. The treatment for the disease is a bone marrow transplant with the patient's cells. There are also dietary modifications that can help maintain normal digestive system function and reduce symptoms of the disease.

Maple syrup (CM) is a rare genetic disorder associated with pancreatic and metabolic disorders. This is a hereditary disease that affects approximately 5 thousand people out of every 20-30 thousand births in the United States. In Maple Syrup disease, people with a special gene are unable to properly produce and metabolize carbohydrates in the body. Instead of producing the natural sugar glucose, patients produce higher levels of fructose salts, which give the syrup its sweet taste. Patients list certain sweets, such as honey, candy, and corn syrup, as their favorite dessert. This nutritional imbalance also affects digestive function and can lead to various complications. Fortunately, there is treatment for most patients, and they can lead normal lives and even exercise. But because of this syndrome, patients have many problems with digestion and other systems. There are also genetic diagnostic methods that allow you to find out whether there is a risk of having a child with Maple Sitra syndrome, as well as tests that determine the patient’s genotype. Thanks to a new method of intrauterine diagnostics during early pregnancy, it is possible in 80% of cases to avoid the birth of a child with Maple Syndrome disease.