Hypersarcosinemia

Hypersarcosinemia: causes, symptoms and treatment

Hypersarcosinemia is a rare hereditary disease that is manifested by an increased level of sarcosine in the blood. Sarcosine is an amino acid that plays an important role in brain and muscle metabolism. The level of sarcosine in the blood is usually very low, but in hypersarcosinemia it can be significantly elevated.

Causes of hypersarcosinemia

Hypersarcosinemia is a hereditary disease that is transmitted in an autosomal recessive manner. This means that the disease occurs only in people whose both parents carry a mutation in the SARDH gene, which codes for the enzyme responsible for metabolizing sarcosine.

Symptoms of hypersarcosinemia

Patients with hypersarcosinemia may experience delayed psychomotor development, muscle hypotonia, hypothyroidism, anemia and other manifestations. Some patients may also experience epilepsy, delayed speech development, and impaired motor coordination.

Diagnosis of hypersarcosinemia

To diagnose hypersarcosinemia, it is necessary to perform a biochemical blood test, which allows you to determine the level of sarcosine in the blood. Genetic testing may also be needed to determine if there is a mutation in the SARDH gene.

Treatment of hypersarcosinemia

Treatment of hypersarcosinemia is aimed at reducing the level of sarcosine in the blood and eliminating the symptoms of the disease. The main treatment method is a diet that excludes foods rich in sarcosine. In severe cases, it may be necessary to use medications that reduce the level of sarcosine in the blood and help eliminate the symptoms of the disease.

In conclusion, hypersarcosinemia is a rare but serious inherited disorder that can lead to psychomotor retardation, epilepsy and other problems. Early diagnosis and timely treatment can help eliminate symptoms of the disease and improve the quality of life of patients.

Hypersarcosinemia is a disease in which there is an excess content of the amino acid sarcosine in the blood. This is a rare genetic disorder characterized by the accumulation of fatty acid metabolites in the body. It is associated with mutations in the SARC gene.

Hypersarcosinamia can have several causes. Some