The mucopolysaccharidoses and mucolipidoses as model systems for the investigation of genetic disorders

Investigation of patients with relatively rare inborn errors of metabolism has led to a clearer understanding of mucopolysaccharide structure and the physiology of tne enzymatic degradation of these ubiquitous polymers. Studies of the mucolipidoses have provided insight into cellular mechanisms of enzyme protein modification, processing, and localization. Dissection of the biochemical basis of these conditions has helped to clarify general genetic principles such as allelism and heterogeneity. Through the concerted effort of a number of laboratories studying a relatively small number of patients with rare heritable disorders of metabolism, considerable advances have been made in a short period of time. These experiments have been very important in their own right and have held a number of practical benefits for affected individuals. In addition, however, investigations into the mucopolysaccharidoses and mucolipidoses have provided a very useful model which should be productively applicable to the unraveling of the secrets of other inborn errors of metabolism.