title: Inherited metabolic disease: prospects for the future in both basic and clinical research.
abstract: The birth of a child with an inherited disorder is often the beginning of a life-long problem for the whole family. About 8.5% of paediatric deaths and 4.7% of paediatric hospital admissions are due to autosomal and sex-linked recessive diseases. These figures are likely to be erroneously low because of incomplete ascertainment. The inherited metabolic diseases therefore merit study on economic as well as humanitarian grounds. Investigations of the disorders of purine metabolism have been conducted for more than a century and a half in the borderland between biochemistry and medicine, illuminating both disciplines and reflecting their separate developments. These studies are a general model for work in other branches of human intermediary metabolism. It is hoped that the basic study of the inborn errors or metabolism will expand our knowledge of the defective gene and of its product, the enzyme protein. Clinical studies should aim to improve the prenatal, postnatal and carrier-state diagnosis of these disorders, and to improve their treatment by methods which can be made practicable and generally available at the clinical level. There may be some hope for enzyme replacement in certain circumstances. The prospect for genetic modification at the clinical level is almost infinitely far away, where many would say that is should remain.
mesh_terms: D000653:Amniotic Fluid / Q000032:analysis; D002478:Cells, Cultured; D004274:DNA, Recombinant; D057487:Enzyme Therapy; D005260:Female; D005312:Fetal Blood / Q000032:analysis; D005818:Genetic Engineering; D006801:Humans; D007926:Lesch-Nyhan Syndrome / Q000201:enzymology; D008661:Metabolism, Inborn Errors / Q000175:diagnosis / Q000378:metabolism* / Q000628:therapy; D011247:Pregnancy; D011687:Purines / Q000378:metabolism
chemical_list: D004274:DNA, Recombinant; D011687:Purines