Inherited enzyme defects: a review

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Abstract
To this review those diseases that can be called inborn errors of metabolism are indicated. This list is not complete because those diseases which are either due to defective tubular reabsorption in the kidney or to impaired absorption from the gut are left out. These hereditary diseases demonstrate the importance of the biochemical approach in clinical medicine. The hereditary make-up of the organism determines the potentiality, but other factors, for example the environment, play a part. For instance, the hemolytic anemia due to glucose-6-phosphate dehydrogenase deficiency only appears when some factor intervenes to oxidize the cell glutathione; the galactosaemic infant becomes ill when fed on galactose. This combination of genetic and environmental factors may play an important part in our understanding of other diseases, for example, diabetes. Although the diseases described are for the most part rare, it is probable that in the next decade others will be found, and, more important, some of the commoner diseases will be better understood by the application of methods of investigation similar to those outlined.