Remhelda Syndrome

Roemheld syndrome (Roemheld syndrome) is a rare hereditary disease associated with metabolic disorders. It is characterized by a decrease in the activity of enzymes responsible for the metabolism of amino acids, which leads to the accumulation of toxic products in the body.

The syndrome was described by the German physician Ludwig Roemheld in 1921. He observed symptoms similar to those of kidney failure in several members of his family. It was later determined that the cause of the disease was a mutation in the gene responsible for the synthesis of the enzyme alanine aminotransferase (ALAT).

The main symptom of Roemheld syndrome is kidney dysfunction. Patients may experience lower back pain, swelling, increased blood pressure and other symptoms. In addition, with this disease there is a metabolic disorder, which can manifest itself in the form of obesity, diarrhea, constipation, changes in taste and smell.

Diagnosis of Roemheld syndrome is based on analysis of genetic tests and clinical symptoms. Treatment of the disease consists of prescribing a diet containing little protein and high carbohydrates, as well as taking medications that help reduce the level of toxic substances in the blood.

Although Roemheld syndrome is rare, it can be life-threatening if not treated promptly. Therefore, diagnosis and treatment of this disease should be carried out as early as possible.