Histidineuria

Histidinuria is a rare inherited disease characterized by elevated levels of histidine in the urine. Histidine is an essential amino acid that is necessary for the normal functioning of the body. With histidinuria, there is a disturbance in histidine metabolism, which leads to increased levels in the urine and health complications.

The causes of histidinuria can be hereditary or acquired. Hereditary histidinuria is caused by mutations in the genes responsible for histidine metabolism. In this case, histidine accumulates in the body and is excreted in urine in increased quantities. Acquired histidinuria can occur when taking medications containing histidine, as well as in diseases that impair the metabolism of histidine (for example, hemochromatosis, Wilson-Konovalov disease).

Histidinuria can be detected when urine is collected for analysis, where the level of histidine will be elevated. However, to make a diagnosis, additional research (PCR, genetic analysis) and consultation with a geneticist may be required.

Symptoms of histidyuria may include fatigue, irritability, headaches, loss of appetite, and weight gain. The patient's urine may have a yellowish or reddish tint. In some patients, histidynia may be accompanied by skin hyperpigmentation.

To treat histidynia, a diet containing a reduced amount of histidine and the use of drugs that reduce the level of histide in the body are used. Treatments such as hemodialysis, which removes excess histidine from the blood, and kidney transplantation in severe cases may also be used.