ANALYZING SIGNS AND SYMPTOMS OF METABOLIC DISEASES

Inborn metabolic errors, while not common, may have significant implic ations for patients. Those patients with such errors who have acute li fe-threatening symptoms must be treated immediately, and specimens for analysis should best be obtained during the critical stage. Many infa nts and children seen with acute symptoms are the ones most likely to have treatable diseases. At a more leisurely pace, other inborn errors can be diagnosed in order to provide appropriate counseling and progn osis.