What is Mucopolysaccharidosis?

Description of the disease

Mucopolysaccharidosis is a group of rare genetic disorders characterized by a disturbance in the metabolism of mucopolysaccharides. This leads to the accumulation of these substances in tissues and organs, resulting in various pathological manifestations.

Classification

• Mucopolysaccharidosis type I
• Mucopolysaccharidosis type II
• Mucopolysaccharidosis type III (Sanfilippo syndrome)
• and others

Symptoms

• Coarse facial features
• Delayed mental development
• Specific organ and system dysfunction

Causes

Mucopolysaccharidosis is a genetic disorder inherited from both parents, often in an autosomal recessive manner.

Diagnosis

Diagnosis involves testing the levels of mucopolysaccharides in the urine, biochemical and genetic testing.

Treatment

Treatment is aimed at symptomatic therapy, maintaining organ and system functions, as well as correcting enzyme deficiencies.

Prevention

Preventing the onset of mucopolysaccharidosis is based on genetic counseling and pre-implantation diagnosis for parents at risk of passing on the disease gene.

Doctor

Mucopolysaccharidosis treatment is carried out by a genetic pediatrician.