Principles of evaluation of inborn errors of metabolism

Abstract

Many pediatricians who deal with unhealthy children, might have come across a newborn or an infant with a critical general condition, convulsion, sever hypotonia, and acid-base disturbances, yet they have not managed to justify such problem in any way. In some cases, poor feeding, failure to thrive well (FTT) developmental delay or intractable seizures can not be explained. In dealing with such patients, provided that there is no positive sign of sepsis or meningitis, it is logical to think of a family of disorders called "Inborn errors of metabolism". Although these diseases are very rare individually, they from a diverse group. Some of such disorders are curable and should be diagnosed in no time so that the progress of the illness could be prevented with the appropriate therapy. Yet a large number of these disorders are incurable and bring about early death in the newborn and infants. The precise diagnosis of the illness, genetic counseling, taking a stand on the next siblings, and prenatal diagnosis are especially important. In this article I have attempted to categorize and come to a general guideline for a better clinical approach