Chapter 93

Inborn errors of metabolism (IEMs) are a group of disorders that are of great importance to physicians treating newborns. The immediate diagnosis and appropriate treatment of these conditions are often directly linked to the patient's outcome to the extremes of avoiding death or irreversible brain damage. Pediatricians may feel overwhelmed by the number and complexity of these disorders (Table 93–1) and the interpretation of laboratory tests needed to establish the diagnosis. This chapter, therefore, concentrates on the symptom patterns, laboratory tests and their interpretation, as well as the initial stabilization of the patient rather than discussing details of the specific biochemical and genetic defects or special treatment measures of IEMs. Usually, the patient's ongoing treatment is supervised by a geneticist specially trained in biochemical genetics.

Table 93–1. INBORN ERRORS OF METABOLISM PRESENTING IN THE NEONATAL PERIOD AND INFANCY

1. I. Classification

1. A. Classification by time of onset. Because of the nature of this manual, we concentrate here on metabolic disorders with onset in the neonatal period and early infancy. Be aware, however, that onset of a disease in later infancy or even in adolescence and adulthood does not exclude the diagnosis of an IEM. It is also important to realize that, even with comprehensive and well-organized neonatal screening programs, a number of IEMs present clinically before they are detected by screening tests or before the ...

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