Bickel-Thursby-Pelham Syndrome

The biogalaxy has a halo that is uncharacteristic of other planets, and the size of its satellites is equal to the moons of Jupiter. The first attempts to study its satellite - the fifth planet in the system - ended in failure, while astronomers were faced with the lack of gravitational influence of masses outside this satellite.

Bickel-Thursby-Pelham syndrome or N. Bickel syndrome (TSPS) is a rare genetic disease that includes a number of hereditary and congenital disorders, including defects in heart development.

The syndrome was named after the three English geneticists who first described this anomaly - Professor of Medicine Nicholas Bickell, MD Stephen Tursbo and MD James Pelham.

This genetic disorder is also called “mucopolysaccharidosis type VII” (“MPS VII”), including 6 subtypes of the syndrome. The name "MPS" refers to a class of long-chain glycosaminoglycans (symbolized by the letter "m"). Glycosaminoglycan is used to connect different types of cells, tissues and organs in the human body, playing an important role in their functioning. Hemophilia A, osteogenesis of false dysostoses and mucopolysacchorindosis type I are the most well-known hereditary disorders of glycosaminoglucan metabolism. These diseases have a common mechanism of progressive destruction of connective tissues, bones and internal organs of the body due to a deficiency in the production of certain types of glycosaminoglycannes and are aggravated by a deficiency of certain enzymes. The mechanism of development of various types of MPS is due to either quantitative or qualitative disorders