Abstract

Lysosomal storage diseases are kinds of rare diseases, most of which are autosomal recessive diseases.Currently more than 50 species have been found.However, the pathogenesis has not yet fully been understood, and the clinical phenotypes are different.Enzyme activity test is the golden standard for the diagnosis.Gene sequencing can be used as auxiliary and prenatal diagnosis.Generally, there are no effective treatments for lysosomal storage disease.Enzymic diagnosis and gene sequencing are commonly used means of prevention in prenatal diagnosis.In recent years, there has been great progress in terms of bone marrow transplantation, enzyme replacement therapy and gene therapy.In China, lysosomal storage disease spectrum is not yet comprehensive; knowledge of this type of disease is still insufficient.Therefore, for the earlier diagnosis and improved prognosis, strengthening the understanding of the disease is necessary. Key words: Lysosomal storage diseases; Diagnosis; Treatment

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