Mucopolysaccharidosis?

summary

Mucopolysaccharidosis? Mucopolysaccharidosis is a group of lysosomal accumulation disease, which is caused by the deficiency of lysosomal hydrolase, resulting in the inhibition of the degradation of acidic mucopolysaccharide (glucosamine) and the accumulation of mucopolysaccharide in the body, resulting in a series of clinical symptoms. In patients with mucopolysaccharide storage disease, excessive mucopolysaccharide is stored in bone, cartilage and other tissues or organs, thus affecting the normal development of these tissues or organs. Excess mucopolysaccharide is excreted from urine, resulting in a series of clinical symptoms and imaging manifestations. Mucopolysaccharide storage syndrome is a congenital or primary metabolic syndrome.

Mucopolysaccharidosis?

The accumulation of mucopolysaccharide in cells will make the patients' intelligence or physiological function worse and worse. There are also differences in the degree of these diseases. Some people are more serious (those with more severe enzyme deficiency) and some people are less serious. Unfortunately, the fact is that these diseases gradually worsen with the increase of age. With the progress of medical research, there are more new progress, some new treatments can reduce the disease, and some subtypes can be diagnosed in prenatal.

The reason for mucopolysaccharidosis is that cells in the body lack enzymes that break down mucopolysaccharide polymers, which are lysosomes secreted by organelles in the cytoplasm. It can decompose aged macromolecules into water-soluble small molecules and expel them from the body. These lysosomes are synthesized by different single genes.

If the gene mutation occurs, the mucopolysaccharide macromolecules in the cell will always accumulate and cannot be metabolized. As a result, the cell will swell and destroy the physiology of the cell. Children with mucopolysaccharidosis are mostly asymptomatic at birth, but with the growth of age, mucopolysaccharidosis accumulates more and more, which not only deforms the appearance of the body, but also makes the function of the body worse and worse.

matters needing attention

This kind of disease is caused by the recessive gene. Except for the second type of MPs, the parents of the other types carry a recessive abnormal gene that can cause the same disease, but the health of the parents is not affected (the so-called recessive carrier). When the children inherit two recessive genes, they will get sick (each child has a quarter of the chance).