“Inherited” and “metabolic diseases”—two phrases that send chills down the spine of a junior doctor. These two words represent endless hours one spent learning all about the mutations, the enzymes and co‐enzymes, the substrate deficiencies, and all those complex biochemical reactions in medical school, and still failed to grasp the complexity of the problem.
In this book, Dr Clarke has made an effort to provide a clear and concise overview of how to go about diagnosing and treating inherited metabolic diseases.
The book takes off in an easy, smooth fashion, with an introduction to basics of metabolic diseases. It starts with a historic perspective and then goes onto explain the basic principles of deranged metabolism.
The rest of the book is organised into chapters according to the most prominent presenting complaint of patients with metabolic diseases: neuro, hepatic, cardiac, metabolic acidosis, dysmorphism, and acute illness in the newborn. Each chapter provides an in depth analysis of the presenting complaint. Then the chapters go on to outline the diagnosis and management of these conditions. Dr Clarke has managed to achieve a good balance between being simple, yet providing enough detailed information about complex conditions. Unlike other textbooks in the market, which divide their chapters into urea cycle defects, glycogen storage disorders, and so on, this book by Dr Clarke is problem based and moves from presenting complaint to diagnosis and treatment. The book is formatted to appeal to both the novice reader and experienced clinician.
The chapter on screening touches on both ethical and clinical controversies associated with screening for metabolic diseases in the newborn. The chapters on laboratory investigations and recent treatment options offer practical advice to clinicians who see patients with metabolic diseases rarely.
There are, however, some areas where the book disappoints you. The cover page is not very attractive. It does not make you automatically want to reach out for the book on a library shelf. The book does not contain any case reports or anecdotal experiences which would have made interesting reading. It is written in a monologue, failing to capture the imagination of the reader.
On the whole, a very useful book for quick reference to the management of metabolic problems.
