Strübing-Marchiafava Disease

Strubinsko-Markiyafava Disease is a rare hereditary genetic disease associated with disruption of the genes responsible for tryptophan metabolism. This disease occurs mainly in women and leads to a sharp decrease in the level of tryptophan in the blood, disruption of the functioning of the nervous system and the development of tumors in the brain.

The first description of Štrubinsk-Markiyawa disease was provided in 1895 after studying the incidence of children in one of the families. This pathology was named after the two scientists who discovered it.

Strubing was a famous German doctor of the 19th century, and Marchiafavoy was an Italian pathologist, after whom the disease itself was named. They studied a one-child family where three of the four children suffered from Strubinski-Markiyafa disease. Scientists have suggested that this is due to a mutation in the gene responsible for the production of an enzyme involved in the process of converting three