Lysosomal disease

Zhao, H. and Grabowski. G. 2002. Gaucher disease perspectives on a prototype lysosomal disease. Cellular and Molecular Life Sciences 59(4), 694-707. 

The descriptions given here have been simplified. For many lysosomal diseases there are mild and severe forms and infantile or juvenile forms to be contrasted with adult forms. Some of the enzymes exist as multiple isozymes. An enzyme may be completely lacking or... 

Gelb BD, Shi GP, Chapman FIA et al (1996) Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency. Science 273 1236-1238... 

Suzuki K (1998) Twenty five years of the psychosine hypothesis a personal perspective of its history and present status. Neurochem Res 23(3) 251-259 Walkley SU (2009) Pathogenic cascades in lysosomal disease-Why so complex J Inherit Metab Dis 32(2) 181-189... 

Maria Fuller Lysosomal Diseases Research Unit, Department of Genetic Medicine, Women s and Children s Hospital, Adelaide, Australia... 

Glycodrug Carbohydrate Polysaccharides Glycoprotein Biopharmaceutical Therapeutic antibody Lysosomal disease Lectin Vaccine... 

As illustrated above, utilization of the targeting function of carbohydrates has enabled efficient enzyme replacement therapy and its clinical application. Efforts are currently being made to develop new technology to ensure adequate amounts of enzymes and to enable the application of this kind of drug to the treatment of lysosome disease complicated by disorders of the central nervous system. 

Brady, R. O., Enzyme replacement for lysosomal diseases, Annu Rev Med 57 (2006) 283-296. 

In conclusion to Section 7.6, the complex situation arises from the fact that the types of genetic hyperglycosaminoglycanuria are inborn lysosomal diseases in which the material that accumulates is determined by the specificity of an enzyme(s) present in normals, but missing in the patient. As already indicated, probably more than one enzyme defect or deficiency is involved in some cases. Clearly the underlying genetically defined chemical processes have yet to be defined, and it remains to be seen, for example, if the enzyme deficiencies arise from alterations to the primary structure of the enzymes and if inactive enzyme is in fact produced in the tissues. 

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