Dietary care of lysosomal enzyme defects

  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 generally the optimum pH is 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 disorders are a group of metabolic genetic disorders caused by the congenital deficiency of a certain lysosomal enzyme due to mutations in certain genes on the chromosome. It is also called lysosomal storage disease because the corresponding substrates in the cell cannot be degraded and are stored in secondary lysosomes due to enzyme deficiency or defective enzyme structure, resulting in impaired cellular metabolism. Mucopolysaccharide storage disease is 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 deposits in tissues and increased excretion of mucopolysaccharides in urine.  The clinical diagnosis of mucopolysaccharidosis is based on its clinical manifestations, the characteristics of X-ray bone films and the increased excretion of different mucopolysaccharides in the urine. Toluidine blue colorimetry can be used as a screening test for this disease, and acetate film electrophoresis can also be used to differentiate the type of mucopolysaccharide excreted and to assist in typing. The exact diagnosis of each type of MPS requires measurement of leukocyte or skin fibroblast-specific enzyme activity. Most types of mucopolysaccharidoses can be diagnosed prenatally by amniotic fluid cell cDNA gene analysis. The biosynthesis of mucopolysaccharide is the formation of linear molecules with a specific sequence of repeating units starting from the core protein and passing through the action of various glycosyltransferases and related modifying enzymes (differential isomerases, sulfotransferases, etc.). Mucopolysaccharide is known to be a common active ingredient in animal medicine, such as in skin (Agaricus blazei, sea cucumber, cicada shed, snake shed, etc.), horn (carpenter’s horn, rhinoceros horn, deer antler, etc.), shell (stone cassia, oyster, wrinkled red snail, etc.), scale and nail (perforated nail, turtle plate, turtle shell, tortoiseshell, etc.), mucus (snail, loach, etc.) and bone (tiger bone, dog bone, etc.), etc. Comparative biochemical studies of mucopolysaccharides have become one of the topics of chemical taxonomy of invertebrates.