What causes lysosomal enzyme deficiency?

summary

Lysosomal enzyme deficiency patients due to enzyme deficiency or enzyme structure defects, resulting in the corresponding substrate in the cell can not be degraded and stored, accumulated in the secondary lysosome, resulting in cell metabolism disorders, so it is also known as lysosomal storage disease. Mucopolysaccharide storage disease is a group of diseases caused by lysosomal enzyme deficiency, which can not degrade acidic mucopolysaccharide molecules (aminoglucan), resulting in a large amount of mucopolysaccharide deposition in tissues and increased excretion of mucopolysaccharide in urine.

What causes lysosomal enzyme deficiency?

Due to the lack of enzyme or structural defect of enzyme, the corresponding substrate in the cell can not be degraded and stored, which accumulates in the secondary lysosome, resulting in cell metabolism disorder. So it is also called lysosomal storage disease. Mucopolysaccharide storage disease is a group of diseases caused by lysosomal enzyme deficiency, which can not degrade acidic mucopolysaccharide molecules (aminoglucan), resulting in a large amount of mucopolysaccharide deposition in tissues and increased excretion of mucopolysaccharide in urine.

Mucopolysaccharide storage disease is a group of diseases caused by lysosomal enzyme deficiency, which can not degrade acidic mucopolysaccharide molecules (aminoglucan), resulting in a large amount of mucopolysaccharide deposition in tissues and increased excretion of mucopolysaccharide in urine. According to the clinical manifestations and enzyme deficiency, MPs can be divided into six types, including Ⅰ h and Ⅰ S. type V has been changed to Ⅰ H / s. Except for type II, the others are autosomal recessive. Just like other lysosomal accumulation diseases, most of the MPS patients develop at about one year old. The course of disease is progressive and involves multiple systems, with similar clinical symptoms. However, the severity of the disease varies and has its own characteristics. Among them, type I h is the most typical type with the worst prognosis, and the children often die before the age of 10; Type I s was the mildest. The lesions mainly involve bone, central nervous system, cardiovascular system, liver, spleen, joint, tendon and skin.

Congenital lactase deficiency: the infant vomits soon after eating breast milk or cow's milk, can't grow up, and has dehydration, acidosis, lactoinuria and aminoaciduria. The condition is serious and the prognosis is poor. This disease, also known as disaccharide intolerance, refers to a variety of congenital or postnatal diseases, resulting in the lack of disaccharide enzyme at the brush edge of small intestinal mucosa, resulting in the disorder of disaccharide digestion and absorption, and a series of symptoms and signs when eating foods containing disaccharide. It can be divided into primary and secondary disaccharidase deficiency, including lactase, sucrase, maltase, trehalase and so on. Lactase deficiency is the most common. Lactase deficiency is also known as lactose intolerance or lactose malabsorption. Lactase can decompose lactose into galactose and glucose. Due to the lack of lactase, patients only have slight disaccharide absorption after eating lactose, and the rest enter the lower part of the small intestine. Bacteria in the intestinal cavity ferment disaccharide to produce lactic acid and other organic acids, carbon dioxide and nitrogen. The unabsorbed disaccharide increases the osmotic pressure in the intestinal cavity and reduces the intestinal water absorption, causing diarrhea. The effect of organic acids on the intestinal tract makes the excretion of acidic feces cause abdominal distension and bowel sounds due to excessive gas production.

matters needing attention

Primary prevention: the prevention of genetic diseases, in addition to epidemiological investigation, carrier detection, population genetic and environmental monitoring, marriage and fertility guidance, efforts to reduce the incidence of genetic diseases in the population and improve the quality of the population, must take effective preventive measures for individuals, To avoid the birth of offspring with genetic diseases (i.e. eugenics) and the occurrence of genetic variation, the usual measures include: premarital examination, genetic counseling, prenatal examination and early treatment of genetic diseases.