Hurler Syndrome Late

Hurler syndrome is a rare genetic disease characterized by impaired synthesis of glycosaminoglycans in tissues or disorders of their metabolism. The disease is named after the English doctor who first described it in 1955.

Hurler syndrome is one of three forms of the disease mucopolysaccharidosis (MPS) or a disorder of glycosaminoglycan (GAG) metabolism. The syndrome was first described as three types of the disease under different names: Gurler-Hudderson-Scheie syndrome, Gurlen syndrome, X-linked degeneration type 1. In 1965, the definition of this pathology was introduced into clinical practice. The disease was named after researchers who recognized the problem and introduced the first approaches to its treatment in the second half of the 20th century.

Among the complications of the disease, mental retardation is the most common. Subsequently, cerebral palsy, epilepsy, and cataracts develop. It happens that a patient experiences tumor growth in the brain. Speech disorders can appear as early as early childhood. In Hurler syndrome, it is disrupted due to damage to the cerebellum.