Hydroxyprolinemia

Hydroxyprolinemia is a rare hereditary metabolic disease characterized by increased levels of hydroxyproline in the blood and urine.

The cause of the disease is a deficiency of the enzyme hydroxyproline oxidase, which is involved in the metabolism of the amino acid hydroxyproline. As a result, hydroxyproline cannot be utilized normally and accumulates in the body.

Clinical manifestations of hydroxyprolinemia are variable. In some patients, the disease is asymptomatic. Others may experience delayed mental and physical development, muscle hypotonia, and convulsions.

Diagnosis is based on detecting increased levels of hydroxyproline in biological fluids. Treatment consists of prescribing a diet with limited protein and vitamin supplements. The prognosis is generally favorable with timely treatment.

Hydroxyprolineme is a rare hereditary disease that occurs due to a disorder in the metabolism of proline and glycine. It leads to an increase in the level of hydroxyproline in the blood, which can lead to a number of complications. In this article we will look at what hydroxypurinemia is, its causes, symptoms and treatment.

Hydroxyprolenemine is a hereditary disease of unknown etiology, caused by 7-α-hydroxylase deficiency.