lysosomal enzyme deficiency
Introduction
Introduction A lysosome is a small body containing a series of acidic hydrolase enzymes surrounded by a single layer of lipoprotein membrane in the cytoplasm. It is an organelle with a single-layer membrane saclike structure in the cell. The lysosome contains many kinds of hydrolase enzymes, which can decompose many kinds of substances. The lysosome is likened to the "enzyme warehouse" and "digestive system" in the cell. The enzymes in the lysosome are all hydrolases, and generally have an optimum pH of 5, so they are all acidic hydrolases. If the enzyme in the lysosome is released, the whole cell will be digested. Generally not released into the internal environment, mainly for intracellular digestion. Congenital lysosomal disease is a type of metabolic genetic disease caused by the inadequacy of certain lysosomal enzymes due to mutations in certain genes on the chromosome. Due to enzyme deficiency or enzyme structure defects, the corresponding substrate in the cell can not be degraded and stored, and accumulated in the secondary lysosome, causing cell metabolism disorder, so it is also called lysosomal storage disease. Mucopolysaccharide storage disease is a group of diseases in which acid mucopolysaccharide molecules (aminodextran) cannot be degraded due to lysosomal enzyme defects, resulting in deposition of a large amount of mucopolysaccharide in tissues and increased excretion of mucopolysaccharides in urine.
Cause
Cause
Due to enzyme deficiency or lack of enzyme structure, the corresponding substrate in the cell can not be degraded and stored, and accumulated in the secondary lysosome, causing cell metabolism disorder.
Congenital lysosomal disease is a type of metabolic genetic disease caused by the inadequacy of certain lysosomal enzymes due to mutations in certain genes on the chromosome. Due to enzyme deficiency or enzyme structure defects, the corresponding substrate in the cell can not be degraded and stored, and accumulated in the secondary lysosome, causing cell metabolism disorder, so it is also called lysosomal storage disease. Mucopolysaccharide storage disease is a group of diseases in which acid mucopolysaccharide molecules (aminodextran) cannot be degraded due to lysosomal enzyme defects, resulting in deposition of a large amount of mucopolysaccharide in tissues and increased excretion of mucopolysaccharides in urine.
Examine
an examination
Related inspection
Blood analyzer to check urine routine
Mucopolysaccharide storage disease is a group of diseases in which acid mucopolysaccharide molecules (aminodextran) cannot be degraded due to lysosomal enzyme defects, resulting in deposition of a large amount of mucopolysaccharide in tissues and increased excretion of mucopolysaccharides in urine. According to clinical manifestations and enzyme defects, MPS can be divided into 6 types, such as I to VII. Among them, type I is classified into IH type and IS type, and type V has been renamed as IH/S type. Except for type II, which is sexually linked recessive, the rest are autosomal recessive diseases. Like other lysosomal accumulation diseases, most types of MPS occur at about 1 year of age, the course of the disease is progressive, and involves multiple systems, with similar clinical symptoms, but each type of disease is different, and each has its own The characteristics of the IH type are the most typical, the prognosis is the worst, the child often died before the age of 10, the IS type is the lightest. The lesions mainly involve the bones, but also the central nervous system, the cardiovascular system, and the liver, spleen, joints, tendons, and skin.
Diagnosis
Differential diagnosis
21-Hydroxylase Deficiency: The hormone assay for polycystic ovary is an increase in adrenal DHEAS production, 21 hydroxylase or 11 hydroxylase deficiency. Polycystic ovary syndrome is an endocrine disease in which the ovary is enlarged and contains many fluid-filled sacs with elevated androgen levels and inability to ovulate. The most striking feature is anovulation.
Cytochrome C oxidase deficiency: is a type of Fanconi syndrome, a hereditary or acquired disease. Often associated with cystine disease, characterized by abnormal proximal tubular function, causing glucoseuria, phosphate urine, amino aciduria and bicarbonate urine.
Congenital lactase deficiency: babies vomit soon after eating breast milk or milk, can not grow, dehydration, acidosis, lactoseuria and amino aciduria, serious condition, poor prognosis. This disease, also known as disaccharid intolerance, refers to various congenital or acquired diseases, which makes the intestinal mucosal brush-like disaccharidase deficiency, which causes the digestive and absorption of disaccharide to be disordered. When eating foods containing disaccharide A series of symptoms and signs that occur. Divided into primary and secondary disaccharidase deficiency, including lactase, sucrase, maltase, trehalase and other lack, lactase deficiency is the most common. Lactase deficiency is also known as lactose intolerance or lactose malabsorption. Lactase can break down lactose into galactose and glucose. Due to the lack of lactase, the patient has only a slight disaccharide absorption after eating lactose, and the rest enter the lower part of the small intestine. The bacteria in the intestinal cavity ferment the disaccharide to produce organic acids such as lactic acid and carbon dioxide and nitrogen. The unabsorbed disaccharide increases the osmotic pressure in the intestinal lumen, and the intestinal water absorption decreases to cause diarrhea. The action of organic acids on the intestines causes the discharge of acidic feces, which causes bloating and bowel due to excessive gas production.
Trehalase deficiency: one of the clinical classifications of disaccharidase deficiency. This disease, also known as disaccharid intolerance, refers to various congenital or acquired diseases, which makes the intestinal mucosal brush-like disaccharidase deficiency, which causes the digestive and absorption of disaccharide to be disordered. When eating foods containing disaccharide A series of symptoms and signs that occur.
