Article Text
Book review
A Clinical Guide to Inherited Metabolic Diseases.
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A Clinical Guide to Inherited Metabolic Diseases. By Joel T R Clarke. (Pp 280; £16.95 paperback, £50 hardback.) Cambridge University Press, 1996. ISBN 0-521-48524-X (paperback), 0-521-48064-7 (hardback).
All paediatricians need to know about inherited metabolic diseases. For most of these conditions, diagnosis depends on the astuteness of clinicians. Though newborn screening may be extended to other metabolic disorders in the future, current programmes in most parts of the UK only detect phenylketonuria and congenital hypothyroidism. Metabolic diseases can present in a wide variety of ways, involving any system of the body. No subspecialist can completely ignore these conditions but neonatologists and …