Introduction: Lysosomes is a cytoplasmic membrane organelle discovered in 1955 by Christine DeVodo, who was studying the effects of insulin on the liver. Lysosomes contain various active hydraulic enzymes, including nucleases, phosphatases, sulfatases, proteases, glycosidases, lipases, and phospholipases, which are located in an acidic and pH 5 environment.Lysosomal storage diseases include 50 metabolic disorders . Deficiency in the activity of a hydrolase causes macromolecules to accumulate in lysosomes, thereby causing lysosomal accumulation, such as glycogen accumulation in pump disease and accumulation of glycosaminoglycans in mucopolysaccharidosis.Mucopolysaccharidosis (MPS) is one of the lysosomal storage diseases in which glycosaminoglycans accumulate in the lysosome. Mucopolysaccharidosis is divided into several categories, including Mucopolysaccharidosis VI or Marotex-Lamy syndrome (OMIM 253200), a rare autosomal recessive inherited genetic disorder and a mutation in the aryl sulfatase B gene (ARSB) causes it to occur.
Methods: The first step in diagnosing MPS is to evaluate GAG excretion in urine. People with enzymatic deficiency of arylsulfatase have high levels of glycosaminoglycan in urine. Urinary GAG levels can be measured using qualitative screening tests such as the Berry spot test and quantitative methods such as calorimetric assays.Currently available therapies for mucopolysaccharidosis are six hematopoietic stem cell transplants (HSCT) and enzyme replacement therapy (ERT).
Results: Because of the limitations of the HSCT trial (risks of transplantation, infection during immunosuppression, etc.), hematopoietic stem cell transplantation is only used in patients who lack access to enzymatic replacement therapy or lack responsiveness. Currently, enzymatic replacement therapy is the first recommended treatment for MPS VI. This treatment does not cure a person's genetic defects, but increases the concentration of the enzyme in which the patient is defective.
Conclusion: One of the lysosomal storage diseases is mucopolysaccharidosis type 6, which has severe clinical symptoms. The best way to treat it is with enzyme replacement therapy.This treatment does not cure a person's genetic defects, but increases the concentration of the enzyme in which the patient is defective.