The body’s daily metabolism absorbs useful substances to help infants and adolescents grow, or to maintain the daily activities of adults. Metabolism also produces many large molecules that the body does not need, including sphingolipids, glycoproteins, mucolipids, mucopolysaccharides, oligosaccharides, glycogen, etc., which can be called the body’s “garbage”, which must be processed into small molecules before being eliminated from the body. If not, the garbage will accumulate in the body and affect the normal function of the body’s organs. It is the most acidic organelle in the body and contains more than 50 kinds of enzymes that degrade macromolecules. These enzymes can degrade all kinds of macromolecules into small molecules under acidic conditions and thus be eliminated from the body. If any one of the enzymes in the lysosome is abnormal, the lysosomal storage disease will be formed when the macromolecular “garbage” in the body cannot be degraded and accumulates inside and outside the cell. From these presentations, we can see that lysosomal storage disease is not a single disease, but a group of diseases consisting of nearly 50 enzyme defects. As a whole, the incidence rate in the population is about 1:6000-7000, i.e., one child with lysosomal storage disease in every 6000-7000 people. Based on 17 million births per year in China, there are 2,600 new cases of lysosomal storage disease each year. Lysosomal storage disease can develop at any time in a person’s life, however, the majority of cases occur in infancy and adolescence. What symptoms should be tested to rule out lysosomal storage disease? Intellectual regression: These children had a period of normal development and growth, were able to speak, recite Chinese poems, and some were able to attend elementary school, but later became unresponsive, had poor memory, did not like to learn, did not speak clearly, and had a decline in academic performance. Walking is unstable, easy to fall, gradually lose the strength to walk, need to be supported, and finally completely lose the ability to move. Abnormal personality and behavior: Children who used to listen to their parents and get along well with others around them became inattentive, withdrawn, stubborn, irritable, and aggressive. Unexplained loss of vision and hearing: The child’s originally normal vision and hearing gradually decline, leading to blindness and deafness. The regression of intelligence, abnormal walking, personality and behavior changes and unexplained decline of vision and hearing are all due to the gradual deposition of non-degradable macromolecules in the brain tissue, which affects the function of the brain. Dwarfism with skeletal deformities: These patients show a lack of height, joint stiffness and reduced mobility, such as fingers that cannot be straightened, shoulder joints that cannot be lifted high enough to reach the back of the head, and knee joints that are bent; some children also show a chicken chest, or joints that are particularly loose and have increased mobility. This is due to the accumulation of non-degradable biomolecules and the destruction of bones and connective tissue. Hepatosplenomegaly: These patients may present to the hospital with a bulging abdomen and a protruding navel, and are found to have an enlarged liver and/or spleen in the abdominal cavity due to the accumulation of non-degradable macromolecules in the liver and spleen. When these macromolecules accumulate in the liver and spleen to a certain extent, they will destroy the function of the liver and spleen, and the child will then exhibit poor mental health, anemia, easily catching colds and fevers, and possible bleeding spots on the skin.