Valinoleucinuria

**Valinoleucinuria** is a rare genetic disease that causes toxic acids to accumulate in the blood. These acids are formed during the breakdown of body proteins and cause serious dysfunction of organs and systems.

The disease is caused by a mutation of genes that are responsible for the production of enzymes that destroy excess amino acids in the body

Valinoleicinuria (from the Latin “valine” and “leucine”) is a rare hereditary disease that is associated with metabolic disorders in the body. It can be caused by genetic mutations in genes that control the production of certain proteins involved in amino acid synthesis.

Symptoms of valinoleicinuria may vary depending on the severity of the disease. In general, this can manifest itself in the form of fatigue, weakness, decreased appetite, nausea, vomiting, problems with memory and thinking, and sleep disturbances. Sometimes patients experience psychotic symptoms and depression.

The reasons for the development of the disease remained unclear for a long time, since scientific research began only in the 20th century. More serious metabolic disorders began when it became clear that most mutations occur in different generations of the same family clan.

Recent studies have revealed that the heredity of diseases is associated with a small set of genes with a limited set of functions in various tissues of the body. Genetic changes have been described in key proteins, including cystathione, an enzyme that helps metabolize certain amino acids. Proteins such as cystathione synthase are necessary for the proper digestion of an amino acid called methionine, from which other amino acids are made, including valine and leucine. As a result of enzyme disturbances and other metabolic reactions associated with cystathione synthase, accumulation of these amino acids in the blood serum may occur, leading to characteristic symptoms.

Treatment for valinoleicuria may include changes in diet and medications, such as protein-balanced dietary supplements, antiemetics, and protein stimulants. In addition, in severe forms of the disease, transplantation procedures of liver cells, kidney cells, or parts thereof are sometimes used to help remove excess acids from the body.