A clinical approach to inborn errors of metabolism.

Abstract

Asking physicians to diagnose and treat all varieties of inborn errors or metabolism, without access to an extensive and experienced laboratory, is rather like asking a surgeon to perform his job without a scalpel. Nonetheless, astute clinicians armed with knowledge of the clinical manifestations of these disorders and using some simple algorithms can achieve considerable success although it should be said that tentative and unconfirmed diagnoses can be dangerous both for the patient and for use in genetic counseling. For these reasons it seems critical that areas of the world, such as Southeast Asia, where many of the countries have sophisticated medical systems, should develop regional services which can provide the contemporary procedures critical for accurate diagnosis of inborn errors of metabolism. In either case, the financial costs are substantial (Table 12).