The glycoproteinosis

Lysosomes are cytoplasmic organelles containing hydrolytic enzymes that degrade the macromolecules proteins of cellular catabolism. The causes of lysosomal enzyme disorder stem from 1. Impaired enzyme synthesis 2. Abnormal enzyme targeting 3. Defect of structure of Accessory factor which is needed for enzymes function. Clinical manifestations depend on the organ(s) involved. Seizure disorder, mental handicap and regression are the characteristics of many lysosomal enzyme storage diseases. The lysosomal storage disease, as first described by Hers are characterized by an accumulation of undergraded macromolecules within lysosomes. These disorders are clinically heterogenous groups of inborn errors by about 50 different clinical entities. Nature of the incompletely degraded macromolecules that accumulate in various tissues include: Tthe glycogen storage diseases The mucopolysuccharidosis The mucolipidosi