The number of inborn errors of metabolism for which biochemical analysis is available has been increasing at an accelerating rate. The development of diagnostic tests for these disorders has allowed early treatment for some patients and more accurate genetic counseling in most affected families. The application of these techniques to prenatal diagnosis has allowed the prevention of many cases and has the potential to limit morbidity, including mental retardation. This monograph is an excellent attempt to summarize about 60 such metabolic disorders.
The text of this book contains a concise section on the extent of genetic metabolic disease and its role in infant mortality and morbidity. The individual diseases discussed are well summarized, both from the clinicopathological and biochemical-genetic viewpoints. The various sections are extremely well referenced, including recent developments within the limits of publication times.
A major part of this book is devoted to the methods of prenatal analysis