Lysosomes are small bodies containing a series of acidic hydrolytic enzymes enclosed by a single lipoprotein membrane in the cell plasma. Lysosomes contain many types of hydrolytic enzymes and are capable of breaking down many kinds of substances, and they are likened to an intracellular enzyme warehouse digestive system. The enzymes in lysosomes are all hydrolytic enzymes, and the pH is generally 5, so they are all acidic hydrolytic enzymes. The enzymes in the lysosomes, if released, will digest the entire cell. They are generally not released into the internal environment and are mainly digested intracellularly. Congenital lysosomal diseases are a group of metabolic genetic disorders caused by the congenital deficiency of certain lysosomal enzymes due to mutations in certain genes on chromosomes. Diagnosis of lysosomal enzyme deficiency 21-hydroxylase deficiency: hormonal measurements of polycystic ovaries are increased adrenal DHEAS production and 21 hydroxylase or 11beta; hydroxylase deficiency. Polycystic ovary syndrome is an endocrine disorder in which the ovaries are enlarged and contain many small fluid-filled sacs, with increased androgen levels and failure to ovulate. The most striking feature is anovulation. Cytochrome C oxidase deficiency: a form of Fanconi syndrome, which is an inherited or acquired disorder. It often occurs in association with cystinosis and is characterized by abnormal proximal renal tubular function, causing glucosuria, phosphaturia, amino aciduria and bicarbonaturia. Congenital lactase deficiency: Infants vomit soon after birth after feeding on breast milk or cow’s milk, fail to grow, develop dehydration, acidosis, lactosuria and amino aciduria, and have a severe condition with a poor prognosis. The disease is also known as disaccharide intolerance, which refers to various congenital or acquired diseases that make the small intestinal mucosa brush border disaccharidase deficiency, so that the digestion and absorption of disaccharide is impaired, and a series of symptoms and signs occur when eating food containing disaccharide. There are primary and secondary disorders of disaccharidases, including lactase, sucrase, maltase, and alglucosidase deficiency, with lactase deficiency being the most common. Lactase deficiency is also known as lactose intolerance or lactose malabsorption disorder. Lactase breaks down lactose into galactose and glucose. Due to lactase deficiency, only slight disaccharide absorption occurs after the patient eats lactose, and the rest enters the lower part of the small intestine. The bacteria in the intestinal lumen ferment the disaccharides to produce organic acids such as lactic acid and carbon dioxide and nitrogen. The unabsorbed disaccharides increase the osmotic pressure in the intestinal lumen and reduce the absorption of water in the intestine causing diarrhea. The organic acids act on the intestine and cause the discharge of acidic stool, which causes abdominal distension and intestinal rumbling due to excessive gas production. Alglucanase deficiency: It belongs to one of the clinical classifications of disaccharidase deficiency. This disease, also known as disaccharide intolerance, refers to a variety of congenital or acquired diseases that cause disaccharidase deficiency in the brush border of the small intestinal mucosa, resulting in impaired digestion and absorption of disaccharides, and a series of symptoms and signs that occur when food containing disaccharides is eaten. Mucopolysaccharide storage disease: a group of diseases that occur when acidic mucopolysaccharide molecules (aminoglucan) cannot be degraded due to lysosomal enzyme defects, resulting in large amounts of mucopolysaccharide deposition in tissues and increased mucopolysaccharide excretion in urine. According to the clinical manifestations and enzyme defects, MPS can be divided into 6 types such as Ⅰ to Ⅶ, among which type I is divided into type ⅠH and type ⅠS, and type V has been renamed as type ⅠH/S. Except for type II, which is sex-linked recessive, the rest are autosomal recessive disorders. As with other lysosomal accumulation diseases, most of the MPS types develop around 1 year of age, and the disease course is progressive and involves multiple systems with similar clinical symptoms, but the severity of each type varies and has its own characteristics, among which type IH is the most typical and has the worst prognosis, with children often dying before 10 years of age; type IS has the mildest disease. The lesions mainly involve the skeleton, but also the central nervous system, cardiovascular system, liver, spleen, joints, tendons, skin, etc.