Inborn errors of cellular organelles: an overview.

Metabolic processes in the cell are catalysed by enzymes and enzyme systems present in discrete intracellular compartments consisting of the cytosol and various intracellular organelles. Three well defined groups of genetic diseases in man can now be recognized in which the functions of an intracellular organelle are impaired: lysosomal storage diseases, mitochondrial disorders and peroxisomal diseases. Extensive studies carried out during the last decade on the biogenesis of intracellular organelles have contributed to an understanding of the molecular basis of the lesions leading to these three groups of genetic disorders. The results of the studies have stressed that such lesions can arise not only through mutations in the structural genes for the proteins in an organelle but also through mutations in the genes coding for components required for the specific transport and incorporation of proteins into organelles.