As the saying goes, you reap what you sow. In all living things, some traits of the previous generation (such as human height, weight, skin color, etc.) can be passed on to the next generation, and this is heredity. What is the substance that controls heredity and variation? It is the DNA, or genes, located on the chromosomes within cells that control the expression of biological traits that are passed from generation to generation. If a mutation in a gene causes an abnormal function of the encoded protein, it can lead to disease in the organism, including chromosomal aberrations and diseases caused by mutations in genes that are invisible at the chromosomal level. These are the genetic diseases that we often talk about. Have you ever seen or heard of such cases in your daily life? A child with frequent convulsions accompanied by mental and motor backwardness or even regression, abnormal head MRI, gradual reduction to loss of vision; a young child with once normal growth and development gradually develops coarse facial features, skeletal abnormalities, restricted joint movement, enlarged liver and spleen, and reduced intelligence; a child with no obvious abnormalities in the past gradually develops anemia, thrombocytopenia, enlarged liver and spleen, and skeletal pain; an infant soon after birth develops severe hypotonia, When an infant develops severe hypotonia, respiratory muscle weakness, and enlarged heart soon after birth; when an adolescent develops unexplained unbearable limb pain, rash, abdominal discomfort, and cardiac and renal insufficiency ……, have you ever considered that your child Lysosomal storage disease is a rare genetic disorder? Lysosomal storage disease refers to a large group of diseases in which lysosomal function is defective due to the deficiency of intracellular lysosomal enzymes, activator proteins, transporter proteins and lysosomal protein processing correction enzymes, resulting in the accumulation of specific biomolecules in the lysosomes that cannot be degraded normally, causing swelling of the lysosomal media and serious impairment of cellular function, ultimately leading to functional disability of the corresponding system. Since the discovery of Pompe disease, the first lysosomal storage disorder, in the 1960s, about 50 types of lysosomal storage disorders have been identified so far, and the common types include Gaucher disease, Fabry disease (Fabry disease), mucopolysaccharide storage disorder (MPS), etc., except MPS type II, Fabry disease and Danon’s myopathy are X-linked, except for MPS type II, Fabry disease and Danon’s myopathy, which are autosomal recessive, and the reason these recessive disorders are often overlooked may be related to the lack of a similar medical history in the family. The most common signs and symptoms of lysosomal storage disease include: (1) progressive regression of intelligence and activity, or a period of normal growth and development followed by progressive regression; (2) neuromuscular symptoms such as developmental delay, ataxia, convulsions, and weakness; (3) signs of storage disease such as coarse facial features, skeletal abnormalities, hepatosplenomegaly, anemia, and skin and mucous membrane abnormalities; (4) unexplained limb pain and bone pain, etc. abnormal vision, hearing, etc. The patient’s symptoms are progressively aggravated. Therefore, when a child is found to have similar symptoms, the possibility of having a genetic disorder must be thought of. For a long time, most inherited metabolic diseases such as lysosomal storage disorders lacked effective treatments and could only be treated symptomatically. With the development of biotechnology, enzyme replacement therapy, a potent treatment for some genetic metabolic diseases, has been developed. At present, enzyme replacement therapy has been able to treat at least 6 types of lysosomal storage disorders. The principle of treatment of these drugs is to specifically replenish the metabolic enzymes in the body that are lacking due to genetic defects in order to maintain the balance of metabolism of certain substrates in the body. However, early diagnosis and treatment, especially starting treatment before the onset of symptoms, are essential to improve the quality of survival, and enzymatic tests for lysosomal storage disorders have been used abroad for diagnosis in the neonatal period and for prenatal screening.