Mechanized storage and retrieval of information

The inherited metabolic diseases present special problems of management: their rarity means that if the approximately 2000 cases likely to occur each year in the United Kingdom were evenly distributed among its 360 paediatricians, each would see only eight cases annually, and even if all cases in a given teaching area were attended by a single specialist, he would still have less than 100 cases each year, half of which would have cystic fibrosis, and the rest would be examples of 500 or more possible diseases. Since all, so far, are inherited by recessive and X-linked mechanisms and are associated with specific enzyme deficiencies, it is gratifying that the rate of recognition of new diseases has perceptibly declined whilst the number of known enzyme deficiencies continues to increase (Table 16.1).