Some principles in the management of inherited metabolic disease

  • D. N. Raine


With Sir Archibald Garrod’s Croonian lectures in 1908l, inherited metabolic disease, as an entity, became recognizable; the discovery of an effective treatment for phenylketonuria in 1953 by Bickel, Gerrard and Hickmans2, made it important. Even so, 10 years later, those pioneering a wider approach to the early detection of similar disorders were repeatedly challenged with the question “Why detect them when you can’t treat them?” and in Birmingham two medical colleagues took active steps to prevent the introduction of the neonatal screening programme subsequently reported by Raine and co-workers3, one argument being that the risk of a road accident to the midwife driving to collect the blood specimen would probably exceed any benefits to an infant as a result of the survey! Happily this phase passed, but there emerged a more real and overwhelming problem as the true magnitude of inherited metabolic disease became apparent and the wider implications beyond the care of the propositus were appreciated. It became clear that few specialists were likely to devote the necessary time to the subject to be able to recognize and treat individuals suffering from such a wide range of disorders.


Metabolic Disease Prenatal Diagnosis Inborn Error Duchenne Muscular Dystrophy Glycogen Storage Disease 
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© The Society for the Study of Inborn Errors of Metabolism 1982

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  • D. N. Raine

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