Inborn errors of metabolism: the clinical diagnosis in early infancy

Abstract

Major advances occurring in recent years in the recognition and treatment of inborn errors of metabolism have made it more essential than ever that the physician be familiar with the clinical presentation of these disorders. Although infants with inborn errors of metabolism will continue to be best cared for in centers with expertise in the treatment of inherited metabolic disease, the initial recognition of these disorders remains the responsibility of the practicing physician. A clinical approach to the diagnosis of inborn errors of metabolism in the young infant is presented as well as suggestions for the use of readily available laboratory studies that can serve to identify these infants who will benefit from further evaluation and treatment.