A Clinical Guide to Inherited Metabolic Diseases. By J.T.R. Clarke

Abstract

As books on metabolic disease become more comprehensive and weightier, it is refreshing to find this user-friendly clinical guide which should suit most pockets both in size and cost. For those in training or at the fringes of metabolic disease, the standard texts that we know so well may seem rather daunting. This volume takes us through the labyrinth of metabolic diseases without assuming a prior knowledge of their biochemical classification. The author draws very much on his own extensive experience to produce a succinct and readable text. The book opens with some basic genetics and general metabolic principles, highlighting a number of common diagnostic confusions. There follow seven chapters dealing with the presenting features or ‘syndromes’ commonly seen in patients with inherited metabolic diseases. These include: neurological syndrome (encephalopathies, myopathies etc.), metabolic acidosis, hepatic syndrome, cardiac syndromes, storage syndrome and dysmorphism, acute metabolic illness in the neonate and, somewhat surprisingly, PKU (justified on historical grounds and as an exemplar for screening and treatment). The final chapters deal with laboratory diagnosis from simple screening tests to specific and specialized tests, and finally treatment, from dietary manipulation through to gene therapy. The book is well illustrated, and contains many clear tables with a surprising amount of information, as well as a comprehensive index. In short, this is an excellent guide to metabolic disease; it represents good value for money and, I suspect, will be more likely found in the owner’s pocket rather than on the shelf. It is recommended not only to the ‘busy physician’ and trainee, but to all those with an interest in metabolic disease.